From a2926eb91ac424979765af933891a34c3350dd82 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 4 Feb 2026 15:42:37 +0000 Subject: [PATCH 1/7] update SOP for multiple mappings --- docs/manual-curation/step2-manual-curation.md | 29 +++++++++++++++++++ 1 file changed, 29 insertions(+) diff --git a/docs/manual-curation/step2-manual-curation.md b/docs/manual-curation/step2-manual-curation.md index 94524c5d..59c49b42 100644 --- a/docs/manual-curation/step2-manual-curation.md +++ b/docs/manual-curation/step2-manual-curation.md @@ -118,9 +118,38 @@ to http://www.ebi.ac.uk/efo/EFO_0000612 “Myocardial infarction”. To do this, **duplicate** the row containing the disease string, assign different mappings in each of the rows, and mark them both with an appropriate status. This will be handled downstream during export and evidence string generation. +The result in the spreadsheet might look like this (some columns omitted for brevity): + +| Mapping to use | Status | ClinVar label | Previous mapping | Replacement mapping | Exact matches | +|-|-|-|-|-|-| +| `http://www.ebi.ac.uk/efo/EFO_0001645|Coronary artery disease||EFO_CURRENT` | DONE | coronary artery disease/myocardial infarction | | | | +| `http://www.ebi.ac.uk/efo/EFO_0000612|Myocardial infarction||EFO_CURRENT` | DONE | coronary artery disease/myocardial infarction | | | | + This provision does _not_ apply to cases where the source string contains additional semantic context, such as “susceptibility to...” or “resistance to...”, or drug response terms. +If a disease string was previously mapped to multiple ontology terms, it will appear as two nearly identical rows with +different values in the "Previous mappings" column. These rows can be kept and curated as usual if the above case +applies. + +However, if the multiple mapping is not appropriate (i.e. the string really does contain only a single trait and was +multiply mapped due to an error), then you can **delete** any unnecessary row(s) and proceed with curation as usual. +The export pipeline will handle this modification accordingly. + +For example (some columns omitted for brevity): + +| Mapping to use | Status | ClinVar label | Previous mapping | Replacement mapping | Exact matches | +|-|-|-|-|-|-| +| | | lissencephaly 8 | `http://purl.obolibrary.org/obo/HP_0001339|Lissencephaly|TOKEN_MATCH_LABEL|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | +| | | lissencephaly 8 | `http://purl.obolibrary.org/obo/MONDO_0018838|lissencephaly spectrum disorders|TOKEN_MATCH_LABEL|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | + +Here "lissencephaly 8" refers to a single disease, and has an exact label match in MONDO that we can import. So we +should delete one of the rows (in this case it doesn't matter which) and use the mapping string from "Exact matches": + +| Mapping to use | Status | ClinVar label | Previous mapping | Replacement mapping | Exact matches | +|-|-|-|-|-|-| +| `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | IMPORT | lissencephaly 8 | `http://purl.obolibrary.org/obo/HP_0001339|Lissencephaly|TOKEN_MATCH_LABEL|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | + ### Note on spaces and line breaks Sometimes, especially when copy-pasting information from external sources, a mapping label or URL can contain an From 6f399196a38e5fdfee17527f5a4addf0a35a62d9 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 4 Feb 2026 15:46:45 +0000 Subject: [PATCH 2/7] fix tables --- docs/manual-curation/step2-manual-curation.md | 10 +++++----- 1 file changed, 5 insertions(+), 5 deletions(-) diff --git a/docs/manual-curation/step2-manual-curation.md b/docs/manual-curation/step2-manual-curation.md index 59c49b42..8f506ed0 100644 --- a/docs/manual-curation/step2-manual-curation.md +++ b/docs/manual-curation/step2-manual-curation.md @@ -122,8 +122,8 @@ The result in the spreadsheet might look like this (some columns omitted for bre | Mapping to use | Status | ClinVar label | Previous mapping | Replacement mapping | Exact matches | |-|-|-|-|-|-| -| `http://www.ebi.ac.uk/efo/EFO_0001645|Coronary artery disease||EFO_CURRENT` | DONE | coronary artery disease/myocardial infarction | | | | -| `http://www.ebi.ac.uk/efo/EFO_0000612|Myocardial infarction||EFO_CURRENT` | DONE | coronary artery disease/myocardial infarction | | | | +| `http://www.ebi.ac.uk/efo/EFO_0001645\|Coronary artery disease\|\|EFO_CURRENT` | DONE | coronary artery disease/myocardial infarction | | | | +| `http://www.ebi.ac.uk/efo/EFO_0000612\|Myocardial infarction\|\|EFO_CURRENT` | DONE | coronary artery disease/myocardial infarction | | | | This provision does _not_ apply to cases where the source string contains additional semantic context, such as “susceptibility to...” or “resistance to...”, or drug response terms. @@ -140,15 +140,15 @@ For example (some columns omitted for brevity): | Mapping to use | Status | ClinVar label | Previous mapping | Replacement mapping | Exact matches | |-|-|-|-|-|-| -| | | lissencephaly 8 | `http://purl.obolibrary.org/obo/HP_0001339|Lissencephaly|TOKEN_MATCH_LABEL|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | -| | | lissencephaly 8 | `http://purl.obolibrary.org/obo/MONDO_0018838|lissencephaly spectrum disorders|TOKEN_MATCH_LABEL|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | +| | | lissencephaly 8 | `http://purl.obolibrary.org/obo/HP_0001339\|Lissencephaly\|TOKEN_MATCH_LABEL\|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992\|lissencephaly 8\|EXACT_MATCH_LABEL\|MONDO_HP_NOT_EFO` | +| | | lissencephaly 8 | `http://purl.obolibrary.org/obo/MONDO_0018838\|lissencephaly spectrum disorders\|TOKEN_MATCH_LABEL\|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992\|lissencephaly 8\|EXACT_MATCH_LABEL\|MONDO_HP_NOT_EFO` | Here "lissencephaly 8" refers to a single disease, and has an exact label match in MONDO that we can import. So we should delete one of the rows (in this case it doesn't matter which) and use the mapping string from "Exact matches": | Mapping to use | Status | ClinVar label | Previous mapping | Replacement mapping | Exact matches | |-|-|-|-|-|-| -| `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | IMPORT | lissencephaly 8 | `http://purl.obolibrary.org/obo/HP_0001339|Lissencephaly|TOKEN_MATCH_LABEL|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992|lissencephaly 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO` | +| `http://purl.obolibrary.org/obo/MONDO_0014992\|lissencephaly 8\|EXACT_MATCH_LABEL\|MONDO_HP_NOT_EFO` | IMPORT | lissencephaly 8 | `http://purl.obolibrary.org/obo/HP_0001339\|Lissencephaly\|TOKEN_MATCH_LABEL\|EFO_CURRENT` | | `http://purl.obolibrary.org/obo/MONDO_0014992\|lissencephaly 8\|EXACT_MATCH_LABEL\|MONDO_HP_NOT_EFO` | ### Note on spaces and line breaks From 0b276fb7a35db1b794fd78e6b45d3285377e9587 Mon Sep 17 00:00:00 2001 From: April Shen Date: Mon, 9 Feb 2026 12:35:17 +0000 Subject: [PATCH 3/7] add multiply-mapped trait to test data --- .../expected/trait_names_to_ontology_mappings.tsv | 7 +++---- .../pipelines/resources/finished_curation_spreadsheet.csv | 1 + 2 files changed, 4 insertions(+), 4 deletions(-) diff --git a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv index 068e82ac..0a933cfb 100644 --- a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv +++ b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv @@ -1,4 +1,4 @@ -#generated-date=2026-01-21 +#generated-date=2026-02-09 #ontology=EFO #clinvar_trait_name uri label 2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria @@ -603,6 +603,7 @@ usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0011186 Usher syndro usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma +vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease @@ -2226,6 +2227,7 @@ stargardt disease 4 http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disea stargardt disease, recessive http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome t-cell immunodeficiency, congenital alopecia and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis +tbc1 domain family member 24 http://purl.obolibrary.org/obo/PR_000016108 TBC1 domain family member 24 telangiectasia, hereditary hemorrhagic, type 2 http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia telangiectasia, hereditary hemorrhagic, type 5 http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia thoracic aortic aneurysm and aortic dissection http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection @@ -2264,9 +2266,6 @@ usher syndrome, type 2d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome usher syndrome, type 3b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome usher syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome usher syndrome, type id/f, digenic http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy -vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome -vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy velocardiofacial syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome ventral septal defect http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect ventricular tachycardia, catecholaminergic polymorphic, 6 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia diff --git a/tests/pipelines/resources/finished_curation_spreadsheet.csv b/tests/pipelines/resources/finished_curation_spreadsheet.csv index 92e32e3e..4b1bd2d0 100644 --- a/tests/pipelines/resources/finished_curation_spreadsheet.csv +++ b/tests/pipelines/resources/finished_curation_spreadsheet.csv @@ -46,3 +46,4 @@ http://purl.obolibrary.org/obo/MONDO_0019501,Usher syndrome,FALSE,TRUE,http://pu -,-,-,-,,,,isolated nonsyndromic congenital heart disease,1,,,,,,,,,,,,,, -,-,-,-,,,,simvastatin response - toxicity,1,,,,,,,,,,,,,, http://purl.obolibrary.org/obo/MONDO_0018772,Joubert syndrome,FALSE,TRUE,http://purl.obolibrary.org/obo/MONDO_0018772|Joubert syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT,DONE,,joubert syndrome 2,1,,http://purl.obolibrary.org/obo/MONDO_0018772|Joubert syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0011963|Joubert syndrome 2|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO,,http://purl.obolibrary.org/obo/DOID_0110988|Joubert syndrome 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,http://identifiers.org/omim/608091|Joubert syndrome 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,http://id.nlm.nih.gov/mesh/C536294|Joubert syndrome 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,http://purl.obolibrary.org/obo/MONDO_0011963|Joubert syndrome 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,,,,, +http://www.orpha.net/ORDO/Orphanet_247691,Retinal vasculopathy and cerebral leukodystrophy,FALSE,TRUE,http://www.orpha.net/ORDO/Orphanet_247691|Retinal vasculopathy and cerebral leukodystrophy||EFO_CURRENT,DONE,,"vasculopathy, retinal, with cerebral leukodystrophy",1,,,,,,,,,,,,,, \ No newline at end of file From 4f4a8fcad7f6842bff5a112c9879f63a30f8f3d1 Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 10 Feb 2026 15:56:58 +0000 Subject: [PATCH 4/7] add python script to create latest_mappings file --- bin/trait_mapping/create_latest_mappings.py | 42 +++++++++++++++++++++ tests/trait_mapping/test_main.py | 15 +++++++- 2 files changed, 56 insertions(+), 1 deletion(-) create mode 100755 bin/trait_mapping/create_latest_mappings.py diff --git a/bin/trait_mapping/create_latest_mappings.py b/bin/trait_mapping/create_latest_mappings.py new file mode 100755 index 00000000..efc2643a --- /dev/null +++ b/bin/trait_mapping/create_latest_mappings.py @@ -0,0 +1,42 @@ +#!/usr/bin/env python3 +import argparse +from datetime import datetime + +from cmat.output_generation.clinvar_to_evidence_strings import load_ontology_mapping +from cmat.trait_mapping.ols import is_current_and_in_ontology + + +OUTPUT_FILE_NAME = 'trait_names_to_ontology_mappings.tsv' +OBSOLETE_FILE_NAME = 'obsolete_mappings.tsv' + + +def create_latest_mappings(automated_file, curated_file, previous_file): + # Combine automated, curated and previous mappings + automated_mappings, _, _ = load_ontology_mapping(automated_file) + curated_mappings, _, _ = load_ontology_mapping(curated_file) + latest_mappings, target_ontology, _ = load_ontology_mapping(previous_file) + latest_mappings.update(automated_mappings) + latest_mappings.update(curated_mappings) + + # Check for obsolete mappings and write output + with open(OUTPUT_FILE_NAME, 'w') as out_file, open(OBSOLETE_FILE_NAME, 'w') as obs_file: + out_file.write(f'#generated-date={datetime.today().strftime("%Y-%m-%d")}\n') + out_file.write(f'#ontology=${target_ontology}\n') + out_file.write(f'#clinvar_trait_name\turi\tlabel\n') + + for trait_name, mappings in latest_mappings.items(): + for uri, label in mappings: + s = f'{trait_name}\t{uri}\t{label}\n' + if is_current_and_in_ontology(uri, target_ontology): + out_file.write(s) + else: + obs_file.write(s) + +if __name__ == '__main__': + parser = argparse.ArgumentParser(description="Export columns from CSV download of manual curation spreadsheet") + parser.add_argument('--automated', required=True, help='Path to automated mappings TSV file') + parser.add_argument('--curated', required=True, help='Path to curated mappings TSV file') + parser.add_argument('--previous', required=True, help='Path to previous mappings TSV file') + args = parser.parse_args() + + create_latest_mappings(args.automated, args.curated, args.previous) diff --git a/tests/trait_mapping/test_main.py b/tests/trait_mapping/test_main.py index 5afa8578..07a45b8f 100644 --- a/tests/trait_mapping/test_main.py +++ b/tests/trait_mapping/test_main.py @@ -80,7 +80,7 @@ class TestProcessTrait: ols_query_fields = 'label,synonym' ols_field_list = 'iri,label,ontology_name,synonym' target_ontology = 'EFO' - preferred_ontologies = 'mondo,hp' + preferred_ontologies = ['mondo', 'hp'] def run_process_trait(self, trait): return process_trait(trait, self.zooma_filters, self.zooma_host, self.oxo_targets, self.oxo_distance, @@ -118,6 +118,19 @@ def test_ols_exact_ascii_match(self): assert processed_trait.is_finished assert {m.uri for m in processed_trait.finished_mapping_set} == {'http://www.ebi.ac.uk/efo/EFO_1001093'} + def test_multiple_mappings(self): + # Case 1: multiple mappings from OLS + trait = Trait('albinism', None, None) + processed_trait = self.run_process_trait(trait) + assert processed_trait.is_finished + assert len(processed_trait.finished_mapping_set) == 2 + + # Case 2: multiple mappings from ZOOMA + trait = Trait('6-pyruvoyl-tetrahydrobiopterin synthase deficiency', None, None) + processed_trait = self.run_process_trait(trait) + assert processed_trait.is_finished + assert len(processed_trait.finished_mapping_set) == 3 + @pytest.mark.integration def test_process_trait_zooma_exact_match(): From 0eb3416ceee0d0619981b52a2fde35d6070a7fb3 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 11 Feb 2026 14:45:41 +0000 Subject: [PATCH 5/7] integrate with nextflow and add tests --- bin/trait_mapping/create_latest_mappings.py | 52 ++++--- docs/manual-curation/step3-export-results.md | 3 - pipelines/export_curation_spreadsheet.nf | 134 +++--------------- .../test_create_latest_mappings.py | 60 ++++++++ 4 files changed, 119 insertions(+), 130 deletions(-) create mode 100644 tests/trait_mapping/test_create_latest_mappings.py diff --git a/bin/trait_mapping/create_latest_mappings.py b/bin/trait_mapping/create_latest_mappings.py index efc2643a..3d87d968 100755 --- a/bin/trait_mapping/create_latest_mappings.py +++ b/bin/trait_mapping/create_latest_mappings.py @@ -1,5 +1,6 @@ #!/usr/bin/env python3 import argparse +from copy import deepcopy from datetime import datetime from cmat.output_generation.clinvar_to_evidence_strings import load_ontology_mapping @@ -10,33 +11,52 @@ OBSOLETE_FILE_NAME = 'obsolete_mappings.tsv' -def create_latest_mappings(automated_file, curated_file, previous_file): +def create_latest_mappings(automated_mappings, curated_mappings, previous_mappings, target_ontology): # Combine automated, curated and previous mappings - automated_mappings, _, _ = load_ontology_mapping(automated_file) - curated_mappings, _, _ = load_ontology_mapping(curated_file) - latest_mappings, target_ontology, _ = load_ontology_mapping(previous_file) + latest_mappings = deepcopy(previous_mappings) latest_mappings.update(automated_mappings) latest_mappings.update(curated_mappings) - # Check for obsolete mappings and write output - with open(OUTPUT_FILE_NAME, 'w') as out_file, open(OBSOLETE_FILE_NAME, 'w') as obs_file: + # Ensure no duplicate rows or obsolete mappings + current_rows = set() + obsolete_rows = set() + for trait_name, mappings in latest_mappings.items(): + for uri, label in mappings: + if is_current_and_in_ontology(uri, target_ontology): + current_rows.add((trait_name, uri, label)) + else: + obsolete_rows.add((trait_name, uri, label)) + + current_rows = sorted(list(current_rows)) + obsolete_rows = sorted(list(obsolete_rows)) + return current_rows, obsolete_rows + + +def output_files(current_mappings, obsolete_mappings, target_ontology): + with open(OUTPUT_FILE_NAME, 'w') as out_file: out_file.write(f'#generated-date={datetime.today().strftime("%Y-%m-%d")}\n') out_file.write(f'#ontology=${target_ontology}\n') - out_file.write(f'#clinvar_trait_name\turi\tlabel\n') + out_file.write('#clinvar_trait_name\turi\tlabel\n') + for trait_name, uri, label in current_mappings: + out_file.write(f'{trait_name}\t{uri}\t{label}\n') + + with open(OBSOLETE_FILE_NAME, 'w') as obs_file: + for trait_name, uri, label in obsolete_mappings: + obs_file.write(f'{trait_name}\t{uri}\t{label}\n') - for trait_name, mappings in latest_mappings.items(): - for uri, label in mappings: - s = f'{trait_name}\t{uri}\t{label}\n' - if is_current_and_in_ontology(uri, target_ontology): - out_file.write(s) - else: - obs_file.write(s) if __name__ == '__main__': - parser = argparse.ArgumentParser(description="Export columns from CSV download of manual curation spreadsheet") + parser = argparse.ArgumentParser( + description='Create latest mapping file by combining automated, curated, and previous mappings') parser.add_argument('--automated', required=True, help='Path to automated mappings TSV file') parser.add_argument('--curated', required=True, help='Path to curated mappings TSV file') parser.add_argument('--previous', required=True, help='Path to previous mappings TSV file') args = parser.parse_args() - create_latest_mappings(args.automated, args.curated, args.previous) + automated_mappings, _, _ = load_ontology_mapping(args.automated) + curated_mappings, _, _ = load_ontology_mapping(args.curated) + previous_mappings, target_ontology, _ = load_ontology_mapping(args.previous) + + current_mappings, obsolete_mappings = create_latest_mappings(automated_mappings, curated_mappings, + previous_mappings, target_ontology) + output_files(current_mappings, obsolete_mappings, target_ontology) diff --git a/docs/manual-curation/step3-export-results.md b/docs/manual-curation/step3-export-results.md index 3bc2b679..c7b28a7a 100644 --- a/docs/manual-curation/step3-export-results.md +++ b/docs/manual-curation/step3-export-results.md @@ -21,9 +21,6 @@ nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ -resume ``` -### Duplication checks -The automated pipeline checks for complete duplicates in the list of text-to-ontology mappings. If this check fails, resolve this by editing the `${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv` file directly. - ## Check and correct known problematic mappings There is a [spreadsheet](https://docs.google.com/spreadsheets/d/1m4ld3y3Pfust5JSOJOX9ZmImRCKRGi-fGYj_dExoGj8/edit) which was created to track trait-to-ontology mappings which were especially problematic in the past to users of Open Targets platform. Prior to running subsequent steps, make sure that all traits mentioned in that spreadsheet are mapped to the correct ontology terms in `${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv`. diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index 8149d036..285557b0 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -2,8 +2,6 @@ nextflow.enable.dsl=2 -include { getTargetOntology } from './utils.nf' - def helpMessage() { log.info""" @@ -26,7 +24,7 @@ params.with_feedback = false if (params.help) { exit 0, helpMessage() } -if (!params.curation_root or !params.input_csv) { +if (!params.curation_root || !params.input_csv) { exit 1, helpMessage() } curationRoot = params.curation_root @@ -37,18 +35,13 @@ codeRoot = "${projectDir}/.." * Main workflow. */ workflow { - // Generate latest mappings exportTable() - combineManualAndAutomated(exportTable.out.finishedMappings) - getTargetOntology(params.mappings) - stripMappingsHeader() - mergeWithLatestMappings(combineManualAndAutomated.out.newMappings, stripMappingsHeader.out.previousMappings) - - // Perform checks on latest mappings - checkDuplicates(mergeWithLatestMappings.out.newMappings) + createLatestMappings( + Channel.of("${curationRoot}/automated_trait_mappings.tsv"), + exportTable.out.finishedMappings, + Channel.of(params.mappings) + ) - // Finalise latest mappings file - addMappingsHeader(checkDuplicates.out.duplicatesOk, mergeWithLatestMappings.out.newMappings, getTargetOntology.out.targetOntology) if (params.with_feedback) { generateZoomaFeedback(addMappingsHeader.out.finalMappings) updateLinks(addMappingsHeader.out.finalMappings, generateZoomaFeedback.out.zoomaFeedback) @@ -81,66 +74,32 @@ process exportTable { } /* - * Strip header from existing mappings file. - */ - process stripMappingsHeader { - label 'short_time' - label 'small_mem' - - output: - path "previous_mappings.tsv", emit: previousMappings - - script: - """ - grep -v "^#" ${params.mappings} > previous_mappings.tsv - """ - } - -/* - * Concatenate finished automated and manual mappings into a single file. + * Create latest mappings file. */ -process combineManualAndAutomated { - label 'short_time' +process createLatestMappings { + label 'default_time' label 'small_mem' - input: - path finishedMappings - - output: - path "mappings_no_header.tsv", emit: newMappings - - script: - """ - cat ${curationRoot}/automated_trait_mappings.tsv ${finishedMappings} \ - | sort -u > mappings_no_header.tsv - """ -} - -/* - * Add all mappings from the database which are *not* present in the results of the current curation iteration (automated - * + manually curated). This is done in order to never lose mappings, even if they are not present in ClinVar during the - * latest curation iteration. - */ -process mergeWithLatestMappings { - label 'short_time' - label 'small_mem' + publishDir "${curationRoot}", + overwrite: true, + mode: "copy", + pattern: "*.tsv" input: - path newMappings - path previousMappings + val automatedMappings + path curatedMappings + val previousMappings output: - path newMappings, emit: newMappings + path "trait_names_to_ontology_mappings.tsv", emit: finalMappings + path "obsolete_mappings.tsv", emit: obsoleteMappings script: """ - # The first file operand is the list of mappings in the current database; and the second is the list of trait names - # which are only present in the existing database and not in the new mappings. - export LC_ALL=C - join -j 1 -t \$'\t' \ - <(sort -t \$'\t' -k 1,1 ${previousMappings}) \ - <(comm -23 <(cut -d \$'\t' -f 1 ${previousMappings} | sort -u) <(cut -d \$'\t' -f 1 ${newMappings} | sort -u)) \ - >> ${newMappings} + \${PYTHON_BIN} ${codeRoot}/bin/trait_mapping/create_latest_mappings.py \ + --automated ${automatedMappings} \ + --curated ${curatedMappings} \ + --previous ${previousMappings} """ } @@ -150,6 +109,7 @@ process mergeWithLatestMappings { process generateZoomaFeedback { label 'short_time' label 'small_mem' + publishDir "${curationRoot}", overwrite: true, mode: "copy", @@ -173,54 +133,6 @@ process generateZoomaFeedback { """ } -/* - * Check there are no complete duplicates in the final mappings file. - */ -process checkDuplicates { - label 'short_time' - label 'small_mem' - - input: - path newMappings - - output: - val true, emit: duplicatesOk // ensure we don't do the final linking if this check fails - - script: - """ - sort ${newMappings} | uniq -c | awk '\$1 > 1' > duplicates.tsv - [[ ! -s duplicates.tsv ]] - """ -} - -/* - * Add generated date and target ontology to header of final mappings file. - */ -process addMappingsHeader { - label 'short_time' - label 'small_mem' - publishDir "${curationRoot}", - overwrite: true, - mode: "copy", - pattern: "*.tsv" - - input: - val duplicatesOk - path newMappings - val targetOntology - - output: - path "trait_names_to_ontology_mappings.tsv", emit: finalMappings - - script: - """ - printf '#generated-date=%(%Y-%m-%d)T\n' > trait_names_to_ontology_mappings.tsv - printf '#ontology=${targetOntology}\n' >> trait_names_to_ontology_mappings.tsv - printf '#clinvar_trait_name\turi\tlabel\n' >> trait_names_to_ontology_mappings.tsv - cat ${newMappings} >> trait_names_to_ontology_mappings.tsv - """ -} - /* * Update the symbolic links pointing to the location of the most recent curation result and ZOOMA feedback dataset. */ diff --git a/tests/trait_mapping/test_create_latest_mappings.py b/tests/trait_mapping/test_create_latest_mappings.py new file mode 100644 index 00000000..30c6f905 --- /dev/null +++ b/tests/trait_mapping/test_create_latest_mappings.py @@ -0,0 +1,60 @@ +from unittest.mock import patch + +from bin.trait_mapping.create_latest_mappings import create_latest_mappings + + +def test_create_latest_mappings(): + previous_mappings = { + # Obsolete mapping + 'A': [('http://www.ebi.ac.uk/efo/EFO_obsolete', 'obsolete'), + ('http://www.ebi.ac.uk/efo/EFO_A', 'A')], + # Duplicate mappings + 'B': [('http://www.ebi.ac.uk/efo/EFO_B', 'B'), + ('http://www.ebi.ac.uk/efo/EFO_B', 'B')], + 'C': [('http://www.ebi.ac.uk/efo/EFO_unused', 'unused')], + 'D': [('http://www.ebi.ac.uk/efo/EFO_unused', 'unused')] + } + automated_mappings = { + # Overrides previous mappings + 'C': [('http://www.ebi.ac.uk/efo/EFO_C', 'C')], + 'D': [('http://www.ebi.ac.uk/efo/EFO_automated', 'automated')] + } + curated_mappings = { + # Overrides previous and automated mappings + 'D': [('http://www.ebi.ac.uk/efo/EFO_D', 'D')], + 'E': [('http://www.ebi.ac.uk/efo/EFO_E', 'E')] + } + + with patch('bin.trait_mapping.create_latest_mappings.is_current_and_in_ontology') as m_is_current: + m_is_current.side_effect = lambda uri, ont: False if 'obsolete' in uri else True + current_mappings, obsolete_mappings = create_latest_mappings(automated_mappings, curated_mappings, + previous_mappings, 'EFO') + assert obsolete_mappings == [('A', 'http://www.ebi.ac.uk/efo/EFO_obsolete', 'obsolete')] + assert current_mappings == [(ch, f'http://www.ebi.ac.uk/efo/EFO_{ch}', ch) for ch in 'ABCDE'] + + +def test_create_latest_mappings_multiples(): + previous_mappings = { + 'A': [('http://www.ebi.ac.uk/efo/EFO_A1', 'A1'), + ('http://www.ebi.ac.uk/efo/EFO_A2', 'A2')], + 'B': [('http://www.ebi.ac.uk/efo/EFO_B1', 'B1')], + 'C': [('http://www.ebi.ac.uk/efo/EFO_C1', 'C1')] + } + automated_mappings = {} + curated_mappings = { + 'A': [('http://www.ebi.ac.uk/efo/EFO_A3', 'A3')], + 'B': [('http://www.ebi.ac.uk/efo/EFO_B2', 'B2'), + ('http://www.ebi.ac.uk/efo/EFO_B3', 'B3')] + } + + with patch('bin.trait_mapping.create_latest_mappings.is_current_and_in_ontology') as m_is_current: + m_is_current.return_value = True + current_mappings, obsolete_mappings = create_latest_mappings(automated_mappings, curated_mappings, + previous_mappings, 'EFO') + assert obsolete_mappings == [] + assert current_mappings == [ + ('A', 'http://www.ebi.ac.uk/efo/EFO_A3', 'A3'), + ('B', 'http://www.ebi.ac.uk/efo/EFO_B2', 'B2'), + ('B', 'http://www.ebi.ac.uk/efo/EFO_B3', 'B3'), + ('C', 'http://www.ebi.ac.uk/efo/EFO_C1', 'C1') + ] From e33108677b508c2ecae8abb87b9b2d5726065728 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 11 Feb 2026 14:49:14 +0000 Subject: [PATCH 6/7] update E2E test --- .../resources/expected/obsolete_mappings.tsv | 431 +++++ .../trait_names_to_ontology_mappings.tsv | 1630 ++++++----------- tests/pipelines/test_curation_pipelines.sh | 1 + 3 files changed, 1014 insertions(+), 1048 deletions(-) create mode 100644 tests/pipelines/resources/expected/obsolete_mappings.tsv diff --git a/tests/pipelines/resources/expected/obsolete_mappings.tsv b/tests/pipelines/resources/expected/obsolete_mappings.tsv new file mode 100644 index 00000000..aee49d13 --- /dev/null +++ b/tests/pipelines/resources/expected/obsolete_mappings.tsv @@ -0,0 +1,431 @@ +achondrogenesis, type ii http://www.orpha.net/ORDO/Orphanet_932 Achondrogenesis +acrocallosal syndrome, schinzel type http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome +alagille syndrome 1 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome +alagille syndrome 2 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome +alopecia congenita keratosis palmoplantaris http://www.orpha.net/ORDO/Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia +antithrombin iii deficiency http://www.orpha.net/ORDO/Orphanet_82 Hereditary thrombophilia due to congenital antithrombin deficiency +apolipoprotein a-i (giessen) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (marburg) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (milano) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (munster3b) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (munster3c) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (munster4) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (norway) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i deficiency http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +arrhythmogenic right ventricular dysplasia, familial, 13 http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia +arrhythmogenic right ventricular dysplasia, familial, 2 http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia +ataxia, spastic, 2, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +ataxia, spastic, 3, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +ataxia, spastic, 4, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +blepharophimosis, ptosis, and epicanthus inversus http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +carbonic anhydrase va deficiency, hyperammonemia due to http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +cardiomyopathy, left ventricular noncompaction http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction +carnitine palmitoyl transferase 1 deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +carnitine palmitoyltransferase 1a deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +carnitine palmitoyltransferase i deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +cataract 11 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 15, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +cataract 19, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 21, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 33, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 34, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 39, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 6, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 9, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract hutterite type http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98991 Early-onset nuclear cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +cataract, autosomal recessive congenital 4 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, autosomal recessive congenital 5 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, congenital nuclear, autosomal recessive 2 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, congenital nuclear, autosomal recessive 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, congenital zonular, with sutural opacities http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, posterior polar, 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +catsper-related male infertility http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder +ceroid lipofuscinosis, neuronal, 11 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +ceroid lipofuscinosis, neuronal, 13 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer 10 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer 3 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer, hereditary, nonpolyposis, type 1 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +colorectal cancer, non-polyposis http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +combined malonic and methylmalonic aciduria http://www.orpha.net/ORDO/Orphanet_289504 Combined malonic and methylmalonic acidemia +congenital bilateral absence of the vas deferens http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens +congenital cataract http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +congenital disorder of glycosylation type 1b http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1d http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1f http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1h http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1i http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1j http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1k http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1m http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1n http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1o http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1p http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1q http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1t http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1u http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2b http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2c http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2d http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2h http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2j http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2k http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2l http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation, type ia http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +conotruncal anomaly face syndrome/velocardiofacial syndrome http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome +cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease +deficiency of glycerate kinase http://www.orpha.net/ORDO/Orphanet_941 D-glyceric aciduria +developmental and epileptic encephalopathy 92 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +developmental and epileptic encephalopathy, 3 http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +dicer1-related pleuropulmonary blastoma cancer predisposition syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +digeorge sequence http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome +dilated cardiomyopathy with woolly hair and keratoderma http://www.orpha.net/ORDO/Orphanet_65282 Carvajal syndrome +duane syndrome type 2 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome +duane syndrome type 3 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome +early infantile epileptic encephalopathy http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 10 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 11 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 12 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 13 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 14 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 15 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 16 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 17 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 18 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 2 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 21 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 34 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 4 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 5 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 55 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 59 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 61 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 62 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 7 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 8 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 9 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal http://www.orpha.net/ORDO/Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia +ectopia lentis, isolated autosomal recessive http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis +ectopia lentis, isolated, autosomal dominant http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis +emery-dreifuss muscular dystrophy 2, autosomal dominant http://www.orpha.net/ORDO/Orphanet_261 Emery-Dreifuss muscular dystrophy +epidermolysis bullosa simplex, autosomal recessive 2 http://www.orpha.net/ORDO/Orphanet_304 Epidermolysis bullosa simplex +epilepsy, nocturnal frontal lobe, 5 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, nocturnal frontal lobe, type 1 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, nocturnal frontal lobe, type 3 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, nocturnal frontal lobe, type 4 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epileptic encephalopathy, childhood-onset http://www.orpha.net/ORDO/Orphanet_98259 Childhood-onset epilepsy syndrome +epileptic encephalopathy, early infantile, 1 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 1 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome +epileptic encephalopathy, early infantile, 19 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome +epileptic encephalopathy, early infantile, 23 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 24 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 25 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 26 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 27 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome +epileptic encephalopathy, early infantile, 28 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 29 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 3 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 30 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 31 http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome +epileptic encephalopathy, early infantile, 32 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 33 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 35 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 37 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 38 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 40 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome +epileptic encephalopathy, early infantile, 41 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 42 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 43 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 43 http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome +epileptic encephalopathy, early infantile, 44 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 45 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 46 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 47 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 48 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 49 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 51 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 52 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 53 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 54 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 56 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 57 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 58 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 60 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 60 http://www.orpha.net/ORDO/Orphanet_3451 West syndrome +epileptic encephalopathy, early infantile, 63 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 64 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 76 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 82 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood 1 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood 2 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood 3 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +erythrocytosis, familial, 2 http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia +factor xii (tenri) http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency +factor xiii subunit b deficiency http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency +familial abdominal aortic aneurysm 1 http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm +familial colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +familial erythrocytosis, 1 http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia +familial hypoalphalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +farber disease http://www.orpha.net/ORDO/Orphanet_333 Farber disease +fetal akinesia sequence http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence +friedreich's ataxia http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia +hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency +hereditary hemorrhagic telangiectasia type 1 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +hereditary hemorrhagic telangiectasia type 2 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +hereditary nonpolyposis colorectal cancer type 4 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 5 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 6 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 7 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 8 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary sensory and autonomic neuropathy type ii http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +hereditary sensory and autonomic neuropathy type iia http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +hereditary sensory and autonomic neuropathy type iic http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +holoprosencephaly http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly +hyperaldosteronism, familial, type i http://www.orpha.net/ORDO/Orphanet_403 Familial hyperaldosteronism type I +hyperferritinemia cataract syndrome http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia-cataract syndrome +hypoalphalipoproteinemia, primary, 2 http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +idiopathic pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension +immune dysfunction with t-cell inactivation due to calcium entry defect 1 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction +immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction +immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency +immunodeficiency 11 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 12 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 13 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 14 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 15 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 16 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 17 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 18 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 22 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 24 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 26 with or without neurologic abnormalities http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency +immunodeficiency 28 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 29 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 30 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 36 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 37 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 39 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 40 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 42 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 44 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 45 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 46 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 49 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 50 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 52 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 53 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 8 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +indifference to pain, congenital, autosomal recessive http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +insulin-like growth factor i deficiency http://www.orpha.net/ORDO/Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency +intellectual disability, profound http://www.ebi.ac.uk/efo/EFO_0003847 intellectual disability +kallmann syndrome 1 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 2 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 3 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 5 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 6 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +lamellar cataract http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +lchad deficiency http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +left ventricular noncompaction 6 http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction +leiner disease http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum +leptin deficiency or dysfunction http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency +limb-girdle muscular dystrophy, type 1a http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1b http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1c http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1e http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1f http://www.orpha.net/ORDO/Orphanet_55595 TNP03-related limb-girdle muscular dystrophy D2 +limb-girdle muscular dystrophy, type 2b http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2d http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2e http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2f http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2g http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2j http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2l http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2q http://www.orpha.net/ORDO/Orphanet_254361 Plectin-related limb-girdle muscular dystrophy R17 +limb-girdle muscular dystrophy, type 2s http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c2 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c3 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c5 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c9 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +lissencephaly 2 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 3 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 4 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 5 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 6, with microcephaly http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +liver failure acute infantile http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +long-chain 3-hydroxyacyl-coa dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +lynch syndrome i http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +lynch syndrome ii http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +macular dystrophy, vitelliform, 4 http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy +macular dystrophy, vitelliform, 5 http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy +macular dystrophy, vitelliform, adult-onset http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy +malignant colorectal neoplasm http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +mandibuloacral dysostosis http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia +mandibulofacial dysostosis, treacher collins type, autosomal recessive http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome +megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts +megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts +mental retardation 21, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 3, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 30, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 46, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 49, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 58, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 63, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 9, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 91, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, anterior maxillary protrusion, and strabismus http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 10 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 11 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 13 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 14 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 15 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 16 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 18 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 19 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 22 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 23 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 24 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 26 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 27 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 29 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 30 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 32 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 33 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 35 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 36 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 40 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 42 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 43 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 44 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 45 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 46 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 47 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 5 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 6 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 9 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, fra12a type http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, psychosocial http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, syndromic, claes-jensen type, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 1 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 100 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 101 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 102 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 103 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 104 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 105 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 106 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 12 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 18 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 19 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 61 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 93 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 96 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 99 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +methylmalonyl-coa epimerase deficiency http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +microcephalic osteodysplastic primordial dwarfism type 2 http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II +molybdenum cofactor deficiency, complementation group a http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency +molybdenum cofactor deficiency, complementation group b http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency +molybdenum cofactor deficiency, complementation group c http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency +mucopolysaccharidosis type vi http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis +mucopolysaccharidosis type vii http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 +mucopolysaccharidosis, type ii, severe form http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis +muscular dystrophy, limb-girdle, type 2y http://www.ebi.ac.uk/efo/EFO_0000310 limb-girdle muscular dystrophy +myd88 deficiency http://www.orpha.net/ORDO/Orphanet_183713 Bacterial susceptibility due to TLR signaling pathway deficiency +myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astastic epilepsy +myopathy, centronuclear http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy +myopathy, centronuclear, 1 http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy +myopathy, centronuclear, 4 http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy +nemaline myopathy 11, autosomal recessive http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nemaline myopathy 2, autosomal recessive http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nemaline myopathy 3 http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nephrotic syndrome type 15 http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome +nephrotic syndrome, idiopathic, steroid-resistant http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome +neuronal ceroid lipofuscinosis 6 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +neuropathy hereditary sensory and autonomic type 1 http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 +neuropathy, hereditary sensory and autonomic, type vi http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 +neuropathy, hereditary sensory and autonomic, type viii http://www.orpha.net/ORDO/Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy +neutral lipid storage disease with myopathy http://www.orpha.net/ORDO/Orphanet_98908 Neutral lipid storage myopathy +newfoundland rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +non-syndromic male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +omodysplasia 1 http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia +omodysplasia 2 http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia +osler hemorrhagic telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +osteogenesis imperfecta, type 21 http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type vi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xiii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xiv http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xv http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xvi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xvii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xviii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +paroxysmal non-kinesigenic dyskinesia http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia +pena-shokeir syndrome type i http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence +periventricular heterotopia http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia +periventricular nodular heterotopia 1 http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia +persistent hyperinsulinemic hypoglycemia of infancy http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism +pitt-hopkins-like syndrome 1 http://www.orpha.net/ORDO/Orphanet_221150 OBSOLETE: Pitt-Hopkins-like syndrome +polydactyly, preaxial ii http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +popliteal pterygium syndrome lethal type http://www.orpha.net/ORDO/Orphanet_1234 Bartsocas-Papas syndrome +preaxial polydactyly http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +preaxial polydactyly 4 http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +propionicacidemia http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia +propionyl-coa carboxylase deficiency http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia +renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia http://www.orpha.net/ORDO/Orphanet_140969 Saldino-Mainzer syndrome +renal tubular acidosis, autosomal dominant http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis +renal tubular acidosis, distal, autosomal dominant http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis +retinal cone dystrophy 3b http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal cone dystrophy 4 http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinitis pigmentosa 15 http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +retinitis pigmentosa 82 with or without situs inversus http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +retinitis pigmentosa, concentric http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +robinow sorauf syndrome http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome +schimke immunoosseous dysplasia http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia +short rib polydactyly syndrome 5 http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +short rib-polydactyly syndrome, majewski type http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +short-rib polydactyly syndrome type i http://www.orpha.net/ORDO/Orphanet_93270 Short rib-polydactyly syndrome, Saldino-Noonan type +short-rib thoracic dysplasia 3 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +spastic ataxia 5, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +spastic paraplegia 11, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 51, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 61, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 63, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 77, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spermatogenic failure 10 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 18 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 19 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 20 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 27 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 3 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 39 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 40 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 41 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spinocerebellar ataxia, autosomal recessive 8 http://www.orpha.net/ORDO/Orphanet_88644 Autosomal recessive ataxia, Beauce type +spinocerebellar ataxia, dominant http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia +stargardt disease 1 http://www.orpha.net/ORDO/Orphanet_827 Stargardt disease +thrombophilia, hereditary, due to protein c deficiency, autosomal dominant http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency +thrombophilia, hereditary, due to protein c deficiency, autosomal recessive http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency +thyroid dyshormonogenesis 1 http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis +tumor susceptibility linked to germline bap1 mutations http://www.orpha.net/ORDO/Orphanet_289539 BAP1-related tumor predisposition syndrome +usher syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1c http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1f http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1g http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1j http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 2c http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 2d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 3b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +weill-marchesani syndrome 2 http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome +weill-marchesani syndrome 4 http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome +zonular pulverulent cataract 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract diff --git a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv index 0a933cfb..c1cdc2bc 100644 --- a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv +++ b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv @@ -1,643 +1,40 @@ -#generated-date=2026-02-09 -#ontology=EFO +#generated-date=2026-02-11 +#ontology=$EFO #clinvar_trait_name uri label -2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria -3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency -3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome -46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0020712 46,XY sex reversal 1 -abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration -achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0009003 achromatopsia 2 -acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome -acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia -actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 congenital myopathy 2a, typical, autosomal dominant -acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins -acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia -adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome -adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy -adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy -aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009165 Aicardi-Goutieres syndrome 1 -aicardi-goutieres syndrome 5 http://purl.obolibrary.org/obo/MONDO_0013059 Aicardi-Goutieres syndrome 5 -aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 -alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation -alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome -alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome -amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta -amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis -amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis -amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 -amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy -anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia -anemia, nonspherocytic hemolytic, due to g6pd deficiency http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency -ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy -aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6 -aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 -aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0013902 aortic valve disease 2 -aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency -arrhythmogenic cardiomyopathy with wooly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma -arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 -arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Inherited arrhythmogenic cardiomyopathy -arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 -arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 -aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria -asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 -ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia -ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia -ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder -atrial septal defect 5 http://purl.obolibrary.org/obo/MONDO_0013011 atrial septal defect 5 -autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder -autism, susceptibility to, x-linked 3 http://purl.obolibrary.org/obo/MONDO_0010342 autism, susceptibility to, X-linked 3 -autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome -autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome -autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis -autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features -autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 -autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F -autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy -autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 -autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 -autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss -autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss -autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity -autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type -autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis -autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 -autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum -autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B -autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J -autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q -autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y -autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 -autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia -autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome -baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome -bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome -bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 -bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 -bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 -bartsocas-papas syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 -becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy -beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome -biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency -blepharophimosis, ptosis, and epicanthus inversus, type i http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome -bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome -breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome -breast ductal adenocarcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma -breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm -breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 -breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 -breast-ovarian cancer, familial, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013669 breast-ovarian cancer, familial, susceptibility to, 4 -brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome -brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy -brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome -brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0013015 Brugada syndrome 5 -capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome -carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma -carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma -cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia -cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy -cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0012900 cardiomyopathy, familial restrictive, 3 -cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system -carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency -cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract -cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract -cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract -cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract -cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract -cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract -cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract -charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease -charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O -charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S -charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B -charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 -charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E -charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 -charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 -charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H -charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome -chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0012500 chilblain lupus 1 -chitotriosidase deficiency http://www.ebi.ac.uk/efo/EFO_0022489 chitotriosidase deficiency -chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis -chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia -chédiak-higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome -cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC -cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria -cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC -coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007617 Coffin-Siris syndrome 1 -cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation -cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation -cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome -collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy -colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 -colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 -combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency -combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia -compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy -cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation -congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis -congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 -congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I -congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome -congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency -congenital muscular dystrophy, alpha-dystroglycan related http://purl.obolibrary.org/obo/MONDO_0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 -congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 -congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores -corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/MONDO_0013203 corneal dystrophy, Fuchs endothelial, 3 -cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome -cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome -costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome -cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 Cowden syndrome 6 -cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia -craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia -cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome -cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis -deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia -deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria -deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia -desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 -desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R -desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy -developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 -developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0013388 developmental and epileptic encephalopathy, 11 -developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 -developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0013801 developmental and epileptic encephalopathy, 13 -developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 infantile spasms -developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome -developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy -developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 -developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0014917 developmental and epileptic encephalopathy, 42 -developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 genetic developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 genetic developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 -diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia -dicer1-related tumor predisposition http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition -digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome -dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1DD -dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1G -dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1KK -dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1W -dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy -dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency -duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy -dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome -dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 -dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder -dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 neuromuscular disease caused by qualitative or quantitative defects of dystrophin -early infantile epileptic encephalopathy with suppression bursts http://purl.obolibrary.org/obo/MONDO_0100062 genetic developmental and epileptic encephalopathy -early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0800491 early-infantile DEE -early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy -early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism -ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome -egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer -ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome -ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type -ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome -emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant -emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 enhanced S-cone syndrome -epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis -epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency -epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy -epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia -epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy -epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 Epidermolysis bullosa simplex, Ogna type -epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy -epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 -epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy -episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 -episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 -erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3 -exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 -exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy -factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency -familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 -familial aplasia of the vermis http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma -familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 -familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia -familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci -familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis -familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis -familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis -familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia -familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia -familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever -familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis -familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 -familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis -familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets -familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia -fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C -fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J -fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis -fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 -fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal -fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome -frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia -frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 -galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease -generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 -generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia -gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes -glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 -global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay -glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism -glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency -glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III -glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II -glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency -glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V -gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy -growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency -hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome -hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome -hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome -hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma -hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia -hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia -hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 -hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma -hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 -hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 -hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 -hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 -hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 -hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 -hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 -hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 -hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 -hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 -hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome -hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis -hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome -herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 -herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 -heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant -holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 -holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0014875 hyperaldosteronism, familial, type IV -hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism -hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 -hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 -hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0013827 hyperekplexia 3 -hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria -hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever -hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 -hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency -hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome -hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -hypertrophic cardiomyopathy 1 http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 -hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 -hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 -hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 -hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 -hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis -hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia -hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 -hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis -hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0013234 hypokalemic periodic paralysis, type 2 -idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency -immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 -immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 -immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 -immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 -immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 -inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder -inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy -inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy -infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis -infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis -inflammatory bowel disease 1 http://purl.obolibrary.org/obo/MONDO_0009960 inflammatory bowel disease 1 -inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease -inherited immunodeficiency diseases http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease -intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 -intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability -intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome -intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language -intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 -intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 -intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability -intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 -isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Diffuse palmoplantar keratoderma, Bothnian type -isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis -isolated nonsyndromic congenital heart disease http://www.ebi.ac.uk/efo/EFO_0005207 congenital heart disease -isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm -jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0011963 Joubert syndrome 2 -joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0014770 Joubert syndrome 25 -joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 -joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0012855 Joubert syndrome 8 -joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 -koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome -lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease -lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy -lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0014778 Lamb-Shaffer syndrome -lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017781 12p12.1 microdeletion syndrome -lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency -landau-kleffner syndrome http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome -large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age -larsen syndrome http://purl.obolibrary.org/obo/MONDO_0007875 Larsen syndrome -leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0013231 Leber congenital amaurosis 14 -leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart -limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy -lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly -lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly -long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency -long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval -long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval -long qt syndrome 1 http://purl.obolibrary.org/obo/MONDO_0100316 long QT syndrome 1 -luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome -lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation -malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 -malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm -malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm -malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer -malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer -malignant tumor of prostate http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma -malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer -mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia -marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome -meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009571 Meckel syndrome, type 1 -meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome, type 2 -meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome -megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital -megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://purl.obolibrary.org/obo/MONDO_0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 -megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 -megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy -melnick-needles syndrome http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome -menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease -metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy -metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia -methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency -microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II -microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome -microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome -migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 -mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100224 mitochondrial complex I deficiency, nuclear type 1 -mitochondrial complex iv deficiency, nuclear type 1 http://www.orpha.net/ORDO/Orphanet_254905 Isolated cytochrome C oxidase deficiency -monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes -mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 -mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 -mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B -mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C -mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A -multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency -multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 -multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations -multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 -multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 -myasthenic syndrome, congenital, 22 http://purl.obolibrary.org/obo/MONDO_0044299 myasthenic syndrome, congenital, 22 -myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy -myopathy http://purl.obolibrary.org/obo/HP_0003198 Myopathy -myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy -myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy -myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure -nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome -nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0009725 nemaline myopathy 2 -nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy -nephronophthisis http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis -nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis -nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0013917 nephronophthisis 15 -nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0013163 nephronophthisis-like nephropathy 1 -nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis -nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2 -nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 Neu-Laxova syndrome 2 -neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 -neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 -neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 -neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder -neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 -neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis -neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 -neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 -neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0012080 neuronopathy, distal hereditary motor, type 2B -neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type 7B -neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 -neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0013634 neuropathy, hereditary sensory, type 2C -neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy -niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A -niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0009757 Niemann-Pick disease, type C1 -niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C -non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy -non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy -noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 -normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy -normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy -norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome -obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency -oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 -oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome -ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency -osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta -oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 -paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg -parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma -parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina 2 -parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0008199 late-onset Parkinson disease -paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder -paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia -peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder -peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) -peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) -perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome -peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome -pgm1-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation -pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome -phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency -pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome -pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus -pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome -pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome -pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris -pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy -pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy -polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb -polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 -polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 -preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia -premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 1 http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 -primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea -primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia -primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia -primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia -primary dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001999 idiopathic pulmonary arterial hypertension -progressive familial heart block type ib http://www.orpha.net/ORDO/Orphanet_871 Hereditary progressive cardiac conduction defect -progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 -progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood -prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency -propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia -prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer -protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria -psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 -pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome -pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 -pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 -pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency -rabson-mendenhall syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome -rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy -renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma -retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration -retinal dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_1060144 retinitis pigmentosa 7, digenic -retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0054708 retinitis pigmentosa 80 -retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 -retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0010775 retinitis pigmentosa-deafness syndrome -retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma -rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome -rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome -rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder -rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0013224 rhabdoid tumor predisposition syndrome 2 -rod-cone dystrophy http://purl.obolibrary.org/obo/HP_0000510 Rod-cone dystrophy -rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome -ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders -saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly -schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia -schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy -schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome -seizures, benign familial infantile, 3 http://purl.obolibrary.org/obo/MONDO_0011904 seizures, benign familial infantile, 3 -septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia -septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum -severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency -severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy -severe myoclonic epilepsy in infancy http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome -severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly -severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked myotubular myopathy -short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome -short stature http://purl.obolibrary.org/obo/HP_0004322 Short stature -singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 Singleton-Merten syndrome 1 -skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age -sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome -spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 -spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia -spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome -spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 -spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 -spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type -squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma -squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma -stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease -steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 -steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy -stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome -sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy -teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 Teebi hypertelorism syndrome 1 -telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 -thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0008316 thrombophilia due to protein C deficiency, autosomal dominant -thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency -tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy -tip-toe gait http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait -tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders -transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency -treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome -treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009558 Treacher Collins syndrome 3 -troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome -tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis -tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0008612 tuberous sclerosis 1 -tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis -tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0013199 tuberous sclerosis 2 -tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis -tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 -usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 -usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0011186 Usher syndrome type 1F -usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A -uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma -vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy -very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency -visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment -von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease -wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease -weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome -weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive -wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome -x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 -x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy -xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum -zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency -zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency +2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria 3 methylcrotonyl-coa carboxylase 1 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency +3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0020712 46,XY sex reversal 1 6-pyruvoyl-tetrahydrobiopterin synthase deficiency http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency +abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system -achondrogenesis, type ii http://www.orpha.net/ORDO/Orphanet_932 Achondrogenesis achromatopsia http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0009003 achromatopsia 2 achromatopsia 3 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia achromatopsia 4 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia achromatopsia 5 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia achromatopsia 6 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia achromatopsia 7 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia -acrocallosal syndrome, schinzel type http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome +acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome acromesomelic dysplasia maroteaux type http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, maroteaux type http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type +acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 congenital myopathy 2a, typical, autosomal dominant +acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia adams-oliver syndrome http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adams-oliver syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adams-oliver syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adams-oliver syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adams-oliver syndrome 4 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adams-oliver syndrome 6 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy +adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy agammaglobulinemia http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia agnathia-otocephaly complex http://www.orpha.net/ORDO/Orphanet_990 Agnathia-holoprosencephaly-situs inversus syndrome aicardi goutieres syndrome http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome @@ -646,18 +43,22 @@ aicardi goutieres syndrome 2 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Gouti aicardi goutieres syndrome 3 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome aicardi goutieres syndrome 4 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome aicardi goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009165 Aicardi-Goutieres syndrome 1 +aicardi-goutieres syndrome 5 http://purl.obolibrary.org/obo/MONDO_0013059 Aicardi-Goutieres syndrome 5 aicardi-goutieres syndrome 6 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 aicardi-goutieres syndrome 8 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome aicardi-goutieres syndrome 9 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -alagille syndrome 1 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome -alagille syndrome 2 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome -alopecia congenita keratosis palmoplantaris http://www.orpha.net/ORDO/Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia +alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation alopecia mental retardation syndrome 1 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome alopecia-intellectual disability syndrome 1 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome alopecia-intellectual disability syndrome 4 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome alopecia-mental retardation syndrome 4 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome alpha-1-antitrypsin deficiency http://www.orpha.net/ORDO/Orphanet_60 Alpha-1-antitrypsin deficiency alpha-2-plasmin inhibitor deficiency http://www.orpha.net/ORDO/Orphanet_79 Congenital alpha2-antiplasmin deficiency +alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome +alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome +amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 1, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 13 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis @@ -670,44 +71,48 @@ amyotrophic lateral sclerosis 20 http://purl.obolibrary.org/obo/MONDO_0004976 am amyotrophic lateral sclerosis 21 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 22 with or without frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 6, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 10 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 11 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 12 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 23 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis type 5 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 6 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 8 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 9 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis, typical http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis/frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy amyotrophy, hereditary neuralgic http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy +anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia anauxetic dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia anauxetic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia anauxetic dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia anemia, congenital dyserythropoietic, type 1a http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I anemia, congenital dyserythropoietic, type ib http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I -antithrombin iii deficiency http://www.orpha.net/ORDO/Orphanet_82 Hereditary thrombophilia due to congenital antithrombin deficiency +anemia, nonspherocytic hemolytic, due to g6pd deficiency http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency +ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy aortic aneurysm, familial thoracic 10 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 11, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 2 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 4 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6 +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 aortic aneurysm, familial thoracic 8 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 9 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection aortic dissection http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection +aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0013902 aortic valve disease 2 aortic valve disease 3 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve -apolipoprotein a-i (giessen) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i (marburg) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i (milano) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i (munster3b) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i (munster3c) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i (munster4) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i (norway) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -apolipoprotein a-i deficiency http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency arginase deficiency http://www.orpha.net/ORDO/Orphanet_90 Argininemia armc9-related joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma +arrhythmogenic cardiomyopathy with wooly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, type 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, type 11 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy @@ -715,17 +120,21 @@ arrhythmogenic right ventricular cardiomyopathy, type 12 http://www.orpha.net/OR arrhythmogenic right ventricular cardiomyopathy, type 5 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, type 8 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, type 9 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 +arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Inherited arrhythmogenic cardiomyopathy +arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 +arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 arrhythmogenic right ventricular dysplasia 9 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy -arrhythmogenic right ventricular dysplasia, familial, 13 http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia -arrhythmogenic right ventricular dysplasia, familial, 2 http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria aspartylglucosaminuria, finnish type http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria asphyxiating thoracic dystrophy 2 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy 4 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome asphyxiating thoracic dystrophy 5 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -ataxia, spastic, 2, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia -ataxia, spastic, 3, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia -ataxia, spastic, 4, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia +ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia +ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder ataxia-telangiectasia-like disorder 2 http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder atrial septal defect http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect @@ -733,6 +142,7 @@ atrial septal defect 1 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal atrial septal defect 2 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect atrial septal defect 3 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect atrial septal defect 4 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 5 http://purl.obolibrary.org/obo/MONDO_0013011 atrial septal defect 5 atrial septal defect 6 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect atrial septal defect 7 with or without atrioventricular conduction defects http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect atrial septal defect 8 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect @@ -745,19 +155,34 @@ autism 16 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism 17 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism 5 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism 9 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder autism, severe http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, 18 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, 19 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, 20 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, x-linked 1 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, x-linked 2 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 3 http://purl.obolibrary.org/obo/MONDO_0010342 autism, susceptibility to, X-linked 3 autism, susceptibility to, x-linked 4 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, x-linked 5 http://www.ebi.ac.uk/efo/EFO_0003758 autism autism, susceptibility to, x-linked 6 http://www.ebi.ac.uk/efo/EFO_0003758 autism autistic behavior http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder autistic disorder http://www.ebi.ac.uk/efo/EFO_0003758 autism autistic disorder of childhood onset http://www.ebi.ac.uk/efo/EFO_0003758 autism +autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome autoimmune interstitial lung, joint, and kidney disease http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease +autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome +autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis +autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features +autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 +autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F +autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy +autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 +autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 +autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity +autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 1 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 10 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis @@ -765,16 +190,37 @@ autosomal recessive congenital ichthyosis 2 http://purl.obolibrary.org/obo/MONDO autosomal recessive congenital ichthyosis 3 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 4a http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 4b http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis autosomal recessive congenital ichthyosis 6 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 8 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 9 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 +autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum +autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B +autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J +autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2r http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y +autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 +autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia +autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome +bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome +bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 bardet-biedl syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bardet-biedl syndrome 13 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 bardet-biedl syndrome 15 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bardet-biedl syndrome 17 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bardet-biedl syndrome 18 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bardet-biedl syndrome 19 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 bardet-biedl syndrome 2/6, digenic http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bardet-biedl syndrome 22 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome @@ -788,28 +234,41 @@ bare lymphocyte syndrome type 2, complementation group e http://www.orpha.net/OR bare lymphocyte syndrome, type ii, complementation group b http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II bare lymphocyte syndrome, type ii, complementation group d http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome +bartsocas-papas syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 +becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy becker muscular dystrophy, atypical http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy +beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome benign familial neonatal-infantile seizures http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures benign scapuloperoneal muscular dystrophy with cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy bh4-deficient hyperphenylalaninemia a http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency bile acid malabsorption, primary http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -blepharophimosis, ptosis, and epicanthus inversus http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome -blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome -blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency +blepharophimosis, ptosis, and epicanthus inversus, type i http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome +bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome blue sclerae http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome +breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast cancer http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma breast cancer, early-onset http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma +breast ductal adenocarcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma +breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm breast-ovarian cancer, familial 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome breast-ovarian cancer, familial 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome breast-ovarian cancer, familial 3 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome breast-ovarian cancer, familial 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 +breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 +breast-ovarian cancer, familial, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013669 breast-ovarian cancer, familial, susceptibility to, 4 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy +brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome (shorter-than-normal qt interval) http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0013015 Brugada syndrome 5 brugada syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome brugada syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome @@ -817,8 +276,13 @@ brugada syndrome 9 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome capillary malformation-arteriovenous malformation http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation 1 http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation 2 http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation-arteriovenous malformation -carbonic anhydrase va deficiency, hyperammonemia due to http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome +carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma +carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma +cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia cardiac arrhythmia, ankyrin b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy cardiomyopathy, apical hypertrophic, and neuropathy http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy cardiomyopathy, dilated, 1nn http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy cardiomyopathy, dilated, 1u http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy @@ -828,25 +292,19 @@ cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis http: cardiomyopathy, familial hypertrophic http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic 27 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic, 26 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0012900 cardiomyopathy, familial restrictive, 3 cardiomyopathy, fatal http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy -cardiomyopathy, left ventricular noncompaction http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction -carnitine palmitoyl transferase 1 deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency -carnitine palmitoyltransferase 1a deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency -carnitine palmitoyltransferase i deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system +carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 1 http://purl.obolibrary.org/obo/MONDO_0005129 cataract -cataract 11 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract 15, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract -cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract -cataract 19, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract 21, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract cataract 23, multiple types http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 30 http://purl.obolibrary.org/obo/MONDO_0005129 cataract -cataract 33, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract 34, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract 39, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract cataract 4 http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 40 http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 41 http://purl.obolibrary.org/obo/MONDO_0005129 cataract @@ -854,70 +312,81 @@ cataract 43 http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 44 http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 45 http://purl.obolibrary.org/obo/MONDO_0005129 cataract cataract 48 http://purl.obolibrary.org/obo/MONDO_0005129 cataract -cataract 6, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract 9, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract hutterite type http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98991 Early-onset nuclear cataract +cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract -cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract -cataract, autosomal recessive congenital 4 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, autosomal recessive congenital 5 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, congenital nuclear, autosomal recessive 2 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, congenital nuclear, autosomal recessive 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, congenital zonular, with sutural opacities http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -cataract, posterior polar, 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 1 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 2 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 3 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 4 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 5 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia -catsper-related male infertility http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia -ceroid lipofuscinosis, neuronal, 11 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis -ceroid lipofuscinosis, neuronal, 13 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, 6a http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O +charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S +charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B +charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 charcot-marie-tooth disease type 2b1 http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease charcot-marie-tooth disease type 2d http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E +charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 +charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 charcot-marie-tooth disease type 4b2 with early-onset glaucoma http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 +charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H charcot-marie-tooth disease, type 2m http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease charcot-marie-tooth neuropathy x http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome charlevoix-saguenay spastic ataxia http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay chediak-higashi syndrome, childhood type http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome chilblain lupus http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0012500 chilblain lupus 1 chilblain lupus 2 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chitotriosidase deficiency http://www.ebi.ac.uk/efo/EFO_0022489 chitotriosidase deficiency chondroectodermal dysplasia http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome +chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis choreaacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis choreoacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis +chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia +chédiak-higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome ciliary dyskinesia, primary, 36, x-linked http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia ciliary dyskinesia, primary, 41 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia ciliary dyskinesia, primary, 42 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia classical galactosemia, homozygous duarte-type http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC coffin siris/intellectual disability http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome coffin-siris syndrome http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007617 Coffin-Siris syndrome 1 coffin-siris syndrome 10 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome coffin-siris syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome coffin-siris syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome coffin-siris syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome coffin-siris syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome coffin-siris syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation +cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation +cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome +collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy collagen vi-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy colobomatous optic disc-macular atrophy-chorioretinopathy syndrome http://www.orpha.net/ORDO/Orphanet_2543 OBSOLETE: Microphthalmia-cataract syndrome -colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer -colorectal cancer 10 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer -colorectal cancer 3 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome colorectal cancer, hereditary nonpolyposis, type 4 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome colorectal cancer, hereditary nonpolyposis, type 5 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome colorectal cancer, hereditary nonpolyposis, type 6 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome colorectal cancer, hereditary nonpolyposis, type 7 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome colorectal cancer, hereditary nonpolyposis, type 8 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -colorectal cancer, hereditary, nonpolyposis, type 1 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome -colorectal cancer, non-polyposis http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer colorectal cancer, susceptibility to http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 +combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency combined immunodeficiency due to zap70 deficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency -combined malonic and methylmalonic aciduria http://www.orpha.net/ORDO/Orphanet_289504 Combined malonic and methylmalonic acidemia +combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia combined oxidative phosphorylation deficiency 1 http://www.orpha.net/ORDO/Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy conduction disorder of the heart http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect cone dystrophy 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone dystrophy 4 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy @@ -938,6 +407,7 @@ cone-rod dystrophy 2 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone-rod dystrophy 20 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone-rod dystrophy 21 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone-rod dystrophy 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone-rod dystrophy 6 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone-rod dystrophy 7 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone-rod dystrophy 9 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy @@ -946,71 +416,69 @@ cone-rod dystrophy, aipl1-related http://www.orpha.net/ORDO/Orphanet_1872 Cone r cone-rod dystrophy, x-linked 1 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy cone/cone-rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy congenital aneurysm of ascending aorta http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -congenital bilateral absence of the vas deferens http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens -congenital cataract http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract -congenital disorder of glycosylation type 1b http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1d http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1f http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1h http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1i http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1j http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1k http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1m http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1n http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1o http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1p http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1q http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1t http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 1u http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2b http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2c http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2d http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2h http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2j http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2k http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation type 2l http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation -congenital disorder of glycosylation, type ia http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation +congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis congenital dyserythropoietic anemia type type 1b http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 +congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I congenital hyperammonemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I congenital hypoplastic anemia http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome +congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency +congenital muscular dystrophy, alpha-dystroglycan related http://purl.obolibrary.org/obo/MONDO_0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 congenital muscular hypertrophy-cerebral syndrome http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome congenital myasthenic syndrome http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 12 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 13 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 1a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 1b, fast-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 3b http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 4c http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 congenital myasthenic syndrome, acetazolamide-responsive http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -conotruncal anomaly face syndrome/velocardiofacial syndrome http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome +congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores corneal dystrophy, fuchs endothelial 1 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/MONDO_0013203 corneal dystrophy, Fuchs endothelial, 3 corneal dystrophy, fuchs endothelial, 4 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy corneal dystrophy, fuchs endothelial, 6 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy corneal dystrophy, fuchs endothelial, 8 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy corneal endothelial dystrophy http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome cornelia de lange syndrome 3 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome cornelia de lange syndrome 4 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome cornelia de lange syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome +costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome costello syndrome, severe http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome cowden syndrome http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease cowden syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease cowden syndrome 3 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease cowden syndrome 4 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease cowden syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 Cowden syndrome 6 cowden syndrome 7 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease cranioectodermal dysplasia http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia craniometaphyseal dysplasia, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia crohn disease http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease cutis laxa, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa cutis laxa, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa cutis laxa, autosomal dominant 3 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome +cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis cystic parathyroid adenoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma -cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease dandy-walker like malformation with atrioventricular septal defect http://www.orpha.net/ORDO/Orphanet_7 3C syndrome de lange syndrome http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome deafness http://www.ebi.ac.uk/efo/EFO_0001063 deafness @@ -1094,12 +562,27 @@ deafness, autosomal recessive 91 http://www.ebi.ac.uk/efo/EFO_0001063 deafness deafness, autosomal recessive 93 http://www.ebi.ac.uk/efo/EFO_0001063 deafness deafness, autosomal recessive 97 http://www.ebi.ac.uk/efo/EFO_0001063 deafness deafness, autosomal recessive 98 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deficiency of glycerate kinase http://www.orpha.net/ORDO/Orphanet_941 D-glyceric aciduria +deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia +deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria +deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia dentatorubral pallidoluysian atrophy http://www.orpha.net/ORDO/Orphanet_101 Dentatorubral pallidoluysian atrophy dentatorubral-pallidoluysian atrophy http://www.orpha.net/ORDO/Orphanet_101 Dentatorubral pallidoluysian atrophy -developmental and epileptic encephalopathy 92 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -developmental and epileptic encephalopathy, 3 http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy +developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 +developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0013388 developmental and epileptic encephalopathy, 11 +developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0013801 developmental and epileptic encephalopathy, 13 +developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 infantile spasms developmental and epileptic encephalopathy, 3 http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy +developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy +developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0014917 developmental and epileptic encephalopathy, 42 +developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 genetic developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 56 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 57 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 58 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy @@ -1110,6 +593,7 @@ developmental and epileptic encephalopathy, 67 http://purl.obolibrary.org/obo/MO developmental and epileptic encephalopathy, 67 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 68 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 69 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 genetic developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 70 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 71 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 72 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy @@ -1120,11 +604,13 @@ developmental and epileptic encephalopathy, 76 http://purl.obolibrary.org/obo/MO developmental and epileptic encephalopathy, 77 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 78 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 79 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 developmental and epileptic encephalopathy, 80 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 81 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 85, with or without midline brain defects http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy diamond-blackfan anemia http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia 1 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia diamond-blackfan anemia 11 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia 12 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia 13 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia @@ -1143,10 +629,9 @@ diamond-blackfan anemia 7 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamon diamond-blackfan anemia 8 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia 9 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia-like http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome -dicer1-related pleuropulmonary blastoma cancer predisposition syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +dicer1-related tumor predisposition http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition diffuse nonepidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma -digeorge sequence http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome +digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1a http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1aa http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy @@ -1154,80 +639,85 @@ dilated cardiomyopathy 1b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyo dilated cardiomyopathy 1bb http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1c http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1cc http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1DD dilated cardiomyopathy 1e http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1ee http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1ff http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1G dilated cardiomyopathy 1gg http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1hh http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1i http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1ii http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J dilated cardiomyopathy 1jj http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1KK dilated cardiomyopathy 1ll http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1m http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1n http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1p http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction dilated cardiomyopathy 1s http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1v http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1W dilated cardiomyopathy 1x http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy dilated cardiomyopathy 1y http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 1z http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy dilated cardiomyopathy 3b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -dilated cardiomyopathy with woolly hair and keratoderma http://www.orpha.net/ORDO/Orphanet_65282 Carvajal syndrome +dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy distal myopathy markesbery-griggs type http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type distal myopathy with rimmed vacuoles http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy -duane syndrome type 2 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome -duane syndrome type 3 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome +dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency +duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy +dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome dysgnathia complex http://www.orpha.net/ORDO/Orphanet_990 Agnathia-holoprosencephaly-situs inversus syndrome dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 +dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 dystonia http://purl.obolibrary.org/obo/HP_0001332 Dystonia dystonia 5 http://purl.obolibrary.org/obo/HP_0001332 Dystonia -early infantile epileptic encephalopathy http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 10 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 11 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 12 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 13 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 14 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 15 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 16 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 17 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 18 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 2 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 21 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 34 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 4 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 5 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 55 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 59 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 61 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 62 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 7 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 8 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -early infantile epileptic encephalopathy 9 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder +dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 neuromuscular disease caused by qualitative or quantitative defects of dystrophin +early infantile epileptic encephalopathy with suppression bursts http://purl.obolibrary.org/obo/MONDO_0100062 genetic developmental and epileptic encephalopathy +early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0800491 early-infantile DEE early onset epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal http://www.orpha.net/ORDO/Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia +early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy +early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -ectopia lentis, isolated autosomal recessive http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis -ectopia lentis, isolated, autosomal dominant http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis +ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome +egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer ehlers-danlos syndrome, arthrochalasia type, 1 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome ehlers-danlos syndrome, procollagen proteinase deficient http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type +ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome emery-dreifuss muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -emery-dreifuss muscular dystrophy 2, autosomal dominant http://www.orpha.net/ORDO/Orphanet_261 Emery-Dreifuss muscular dystrophy emery-dreifuss muscular dystrophy 3, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant +emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy emery-dreifuss muscular dystrophy 6 http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy emery-dreifuss muscular dystrophy 7, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm endometrial neoplasm http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm endplate acetylcholinesterase deficiency http://www.orpha.net/ORDO/Orphanet_98915 Synaptic congenital myasthenic syndromes +enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 enhanced S-cone syndrome +epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermodysplasia verruciformis, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermodysplasia verruciformis, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermodysplasia verruciformis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermodysplasia verruciformis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermodysplasia verruciformis, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermolysa bullosa simplex and limb girdle muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy +epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy +epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy +epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy epidermolysis bullosa simplex with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia -epidermolysis bullosa simplex, autosomal recessive 2 http://www.orpha.net/ORDO/Orphanet_304 Epidermolysis bullosa simplex +epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 Epidermolysis bullosa simplex, Ogna type epilepsy, familial adult myoclonic, 1 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy epilepsy, familial adult myoclonic, 4 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy epilepsy, familial adult myoclonic, 5 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy epilepsy, familial adult myoclonic, 6 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy @@ -1242,97 +732,59 @@ epilepsy, idiopathic generalized, susceptibility to, 12 http://www.ebi.ac.uk/efo epilepsy, idiopathic generalized, susceptibility to, 14 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy epilepsy, idiopathic generalized, susceptibility to, 15 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy epilepsy, idiopathic generalized, susceptibility to, 16 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -epilepsy, nocturnal frontal lobe, 5 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy -epilepsy, nocturnal frontal lobe, type 1 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy -epilepsy, nocturnal frontal lobe, type 3 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy -epilepsy, nocturnal frontal lobe, type 4 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy epilepsy, progressive myoclonic 1a (unverricht and lundborg) http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy epileptic encephalopathy lennox-gastaut type http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome -epileptic encephalopathy, childhood-onset http://www.orpha.net/ORDO/Orphanet_98259 Childhood-onset epilepsy syndrome -epileptic encephalopathy, early infantile, 1 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 1 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome -epileptic encephalopathy, early infantile, 19 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome -epileptic encephalopathy, early infantile, 23 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy epileptic encephalopathy, early infantile, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -epileptic encephalopathy, early infantile, 24 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 25 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy epileptic encephalopathy, early infantile, 26 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -epileptic encephalopathy, early infantile, 26 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 27 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome epileptic encephalopathy, early infantile, 28 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -epileptic encephalopathy, early infantile, 28 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy epileptic encephalopathy, early infantile, 29 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -epileptic encephalopathy, early infantile, 29 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 3 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 30 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 31 http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome -epileptic encephalopathy, early infantile, 32 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy epileptic encephalopathy, early infantile, 33 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -epileptic encephalopathy, early infantile, 33 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 35 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy epileptic encephalopathy, early infantile, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG -epileptic encephalopathy, early infantile, 37 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 38 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 40 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome -epileptic encephalopathy, early infantile, 41 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 42 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 43 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 43 http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome -epileptic encephalopathy, early infantile, 44 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 45 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 46 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 47 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 48 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 49 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 51 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 52 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 53 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 54 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 56 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 57 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 58 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 60 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 60 http://www.orpha.net/ORDO/Orphanet_3451 West syndrome -epileptic encephalopathy, early infantile, 63 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 64 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 76 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, early infantile, 82 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, infantile or early childhood 1 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, infantile or early childhood 2 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy -epileptic encephalopathy, infantile or early childhood 3 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy epileptic encephalopathy, infantile or early childhood, 1 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy epileptic encephalopathy, infantile or early childhood, 2 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy epileptic encephalopathy, infantile or early childhood, 3 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy episodic ataxia http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia -erythrocytosis, familial, 2 http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia +episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 +episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3 erythrocytosis, familial, 4 http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation erythrocytosis, familial, 5 http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation erythrocytosis, familial, 7 http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation esophageal carcinoma, somatic http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma +exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 exudative vitreoretinopathy http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy exudative vitreoretinopathy 4 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy exudative vitreoretinopathy 5 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy exudative vitreoretinopathy 6 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy exudative vitreoretinopathy 7 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy exudative vitreoretinopathy, x-linked http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy -factor xii (tenri) http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency -factor xiii subunit b deficiency http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency -familial abdominal aortic aneurysm 1 http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm +factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency familial adenomatous polyposis http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis +familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 familial adenomatous polyposis 3 http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis familial adenomatous polyposis 4 http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis familial aortopathy http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial aplasia of the vermis http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma familial cold autoinflammatory syndrome 2 http://www.orpha.net/ORDO/Orphanet_247868 NLRP12-associated hereditary periodic fever syndrome -familial colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 +familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia familial erythrocytosis http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation -familial erythrocytosis, 1 http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia familial exudative vitreoretinopathy http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy familial exudative vitreoretinopathy, x-linked http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy familial febrile seizures http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus familial febrile seizures 8 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci familial hemiplegic migraine http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine familial hemophagocytic lymphohistiocytosis http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism +familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia familial hypercholesterolemia 1 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia familial hypercholesterolemia 2 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia familial hypercholesterolemia 3 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia @@ -1360,25 +812,41 @@ familial hypertrophic cardiomyopathy 6 http://www.orpha.net/ORDO/Orphanet_99739 familial hypertrophic cardiomyopathy 7 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy 8 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy 9 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypoalphalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever familial mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis familial prostate carcinoma http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 familial thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections +familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis +familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets +familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia +fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C +fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia fanconi anemia, complementation group m http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -farber disease http://www.orpha.net/ORDO/Orphanet_333 Farber disease -fetal akinesia sequence http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence +farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis +fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 fg syndrome http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome fg syndrome 2 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal focal segmental glomerulosclerosis 3, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome focal segmental glomerulosclerosis 4, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome focal seizures http://purl.obolibrary.org/obo/HP_0001250 Seizure -friedreich's ataxia http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia +fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome +frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia +frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria galactosemia http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy generalized epilepsy with atypical absence and tonic/myoclonic seizures http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy generalized epilepsy with febrile seizures plus http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus @@ -1386,129 +854,168 @@ generalized epilepsy with febrile seizures plus 3 http://www.orpha.net/ORDO/Orph generalized epilepsy with febrile seizures plus type 5 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus generalized epilepsy with febrile seizures plus, type 1 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus generalized epilepsy with febrile seizures plus, type 10 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus generalized epilepsy with febrile seizures plus, type 9 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia generalized juvenile polyposis/juvenile polyposis coli http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome gestational diabetes http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes +gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes glanzmann thrombasthenia http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 glanzmann thrombasthenia 2 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay global developmental delay with or without impaired intellectual development http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism +glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency glutaric aciduria, type 2 http://purl.obolibrary.org/obo/HP_0003150 Glutaric aciduria glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency gluthathione synthetase deficiency http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency glycogen storage disease of heart, lethal congenital http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart +glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III +glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II +glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency +glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V +gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy goldmann-favre syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency gyrate atrophy http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina hamartoma http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome -hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency hemophagocytic lymphohistiocytosis, familial, 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial, 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial, 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial, 5 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial, 6 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome hennekam lymphangiectasia-lymphedema syndrome 3 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome +hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 hereditary breast and ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome hereditary breast cancer http://www.orpha.net/ORDO/Orphanet_227535 Hereditary breast cancer +hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome hereditary cancer syndrome http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome +hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome +hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma hereditary diffuse gastric cancer http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer -hereditary hemorrhagic telangiectasia type 1 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia -hereditary hemorrhagic telangiectasia type 2 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia +hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia hereditary hyperekplexia http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 hereditary late onset parkinson disease http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease hereditary myopathy with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure hereditary nonpolyposis colon cancer http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -hereditary nonpolyposis colorectal cancer type 4 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome -hereditary nonpolyposis colorectal cancer type 5 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome -hereditary nonpolyposis colorectal cancer type 6 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome -hereditary nonpolyposis colorectal cancer type 7 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome -hereditary nonpolyposis colorectal cancer type 8 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome hereditary nonpolyposis colorectal carcinoma http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma +hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma hereditary orotic aciduria, type 1 http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria hereditary sensory and autonomic neuropathy http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy -hereditary sensory and autonomic neuropathy type ii http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 -hereditary sensory and autonomic neuropathy type iia http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 -hereditary sensory and autonomic neuropathy type iic http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 +hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 +hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 +hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 +hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 +hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 +hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 +hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 +hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 +hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 hermansky-pudlak syndrome http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 10 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 2 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis hermansky-pudlak syndrome 7 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 8 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 9 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome herpes simplex encephalitis 1 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis herpes simplex encephalitis 2 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 +herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 herpes simplex encephalitis, susceptibility to, 7 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis -holoprosencephaly http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly +heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant holoprosencephaly 1 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly holoprosencephaly 11 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly holoprosencephaly 13, x-linked http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly holoprosencephaly 2 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly holoprosencephaly 3 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly holoprosencephaly 4 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 holoprosencephaly 7 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly holoprosencephaly 9 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly homocystinuria http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria hyper-ige recurrent infection syndrome 4, autosomal recessive http://www.orpha.net/ORDO/Orphanet_169446 OBSOLETE: Autosomal recessive hyper-IgE syndrome -hyperaldosteronism, familial, type i http://www.orpha.net/ORDO/Orphanet_403 Familial hyperaldosteronism type I +hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism +hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 hypercholesterolemia, autosomal dominant, type b http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia hypercholesterolemia, autosomal recessive http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 hypercholesterolemia, familial, 4 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia hyperekplexia 1 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia hyperekplexia 2 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia hyperekplexia 4 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -hyperferritinemia cataract syndrome http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia-cataract syndrome +hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria +hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever +hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 hyperlipoproteinemia, type id http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 -hypoalphalipoproteinemia, primary, 2 http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency -hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome +hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 1 http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 +hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 +hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 +hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 +hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 +hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis +hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia hypokalemic periodic paralysis http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis +hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 +hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis hypomyelinating leukodystrophy 3 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy hypomyelinating leukodystrophy 7 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy idiopathic fibrosing alveolitis, chronic form http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis -idiopathic pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension +idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis -immune dysfunction with t-cell inactivation due to calcium entry defect 1 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction -immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction -immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency -immunodeficiency 11 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 12 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 13 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 14 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 15 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 16 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 17 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 18 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 22 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 24 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 26 with or without neurologic abnormalities http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency -immunodeficiency 28 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 29 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 30 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 36 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 37 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 39 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 40 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 42 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 44 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 45 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 46 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 49 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 50 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 52 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 53 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity -immunodeficiency 8 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity -indifference to pain, congenital, autosomal recessive http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 +immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 +immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 +immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 +immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 +inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder +inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy infantile encephalopathy http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -insulin-like growth factor i deficiency http://www.orpha.net/ORDO/Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency +infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis +infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis +inflammatory bowel disease 1 http://purl.obolibrary.org/obo/MONDO_0009960 inflammatory bowel disease 1 +inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease +inherited immunodeficiency diseases http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease intellectual deficiency http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability -intellectual disability, profound http://www.ebi.ac.uk/efo/EFO_0003847 intellectual disability +intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 +intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome +intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0013266 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 +intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 +intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability intellectual functioning disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability interstitial lung disease 1 http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease interstitial pulmonary abnormality http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease +intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 intractable seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure isolated ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Diffuse palmoplantar keratoderma, Bothnian type +isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis +isolated nonsyndromic congenital heart disease http://www.ebi.ac.uk/efo/EFO_0005207 congenital heart disease +isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm +jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome johanson-blizzard syndrome http://www.ebi.ac.uk/efo/EFO_0001063 deafness joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome @@ -1522,9 +1029,11 @@ joubert syndrome 16 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrom joubert syndrome 17 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 18 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 19 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 21 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 23 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 24 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0014770 Joubert syndrome 25 joubert syndrome 26 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 27 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 28 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome @@ -1534,30 +1043,37 @@ joubert syndrome 32 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrom joubert syndrome 33 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 34 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 35 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 joubert syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 9/15, digenic http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome and related disorders http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia -kallmann syndrome 1 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome -kallmann syndrome 2 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome -kallmann syndrome 3 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome -kallmann syndrome 5 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome -kallmann syndrome 6 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome kleefstra syndrome 1 http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome +kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 +koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome krabbe disease, atypical, due to saposin a deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease -lamellar cataract http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease +lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy +lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017781 12p12.1 microdeletion syndrome +lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency laminin alpha 2-related dystrophy http://www.ebi.ac.uk/efo/EFO_0009138 laminin alpha 2-related dystrophy +landau-kleffner syndrome http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome +large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age +larsen syndrome http://purl.obolibrary.org/obo/MONDO_0007875 Larsen syndrome larsen syndrome, dominant type http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome -lchad deficiency http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency leber congenital amaurosis http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 1 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 10 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 11 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 12 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 13 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 15 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 16 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 17 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis @@ -1572,44 +1088,23 @@ leber congenital amaurosis 7 http://purl.obolibrary.org/obo/MONDO_0018998 Leber leber congenital amaurosis 8 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis 9 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis leber congenital amaurosis with early-onset deafness http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -left ventricular noncompaction 6 http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction leigh syndrome due to mitochondrial complex iv deficiency http://www.ebi.ac.uk/efo/EFO_0009135 leigh syndrome due to mitochondrial complex iv deficiency -leiner disease http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum lennox-gastaut syndrome http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome -leptin deficiency or dysfunction http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency +lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart leukemia, acute myeloid, m0 subtype http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia leukodystrophy, hypomyelinating 3 http://www.orpha.net/ORDO/Orphanet_289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism leukodystrophy, hypomyelinating, 11 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy leukodystrophy, hypomyelinating, 12 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy leukodystrophy, hypomyelinating, 13 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy -limb-girdle muscular dystrophy, type 1a http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 1b http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 1c http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 1e http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 1f http://www.orpha.net/ORDO/Orphanet_55595 TNP03-related limb-girdle muscular dystrophy D2 -limb-girdle muscular dystrophy, type 2b http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2d http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2e http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2f http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2g http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2j http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2l http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy, type 2q http://www.orpha.net/ORDO/Orphanet_254361 Plectin-related limb-girdle muscular dystrophy R17 -limb-girdle muscular dystrophy, type 2s http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy-dystroglycanopathy, type c2 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy-dystroglycanopathy, type c3 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy-dystroglycanopathy, type c5 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy -limb-girdle muscular dystrophy-dystroglycanopathy, type c9 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy lipase deficiency combined http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 lipase deficiency, combined http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 -lissencephaly 2 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly -lissencephaly 3 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly -lissencephaly 4 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly -lissencephaly 5 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly -lissencephaly 6, with microcephaly http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly -liver failure acute infantile http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly lobar holoprosencephaly http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency +long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval +long qt syndrome 1 http://purl.obolibrary.org/obo/MONDO_0100316 long QT syndrome 1 long qt syndrome 1/2, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome long qt syndrome 10 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome long qt syndrome 11 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome @@ -1624,111 +1119,68 @@ long qt syndrome 4 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT long qt syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome long qt syndrome 6 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome long qt syndrome 9 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -long-chain 3-hydroxyacyl-coa dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency lopes-maciel-rodan syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome -lynch syndrome i http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome -lynch syndrome ii http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome +lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome lynch-like syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation macular degeneration, x-linked atrophic http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -macular dystrophy, vitelliform, 4 http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy -macular dystrophy, vitelliform, 5 http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy -macular dystrophy, vitelliform, adult-onset http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy -malignant colorectal neoplasm http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer malignant hyperthermia susceptibility http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 malignant hyperthermia susceptibility type 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to, 1 http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 -mandibuloacral dysostosis http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia -mandibulofacial dysostosis, treacher collins type, autosomal recessive http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome +malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 +malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm +malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer +malignant tumor of prostate http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma +mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia +marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome marfan syndrome, atypical http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome marfan syndrome, mild http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome marfan syndrome, mild variable http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome marfan syndrome, severe classic http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections http://www.ebi.ac.uk/efo/EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009571 Meckel syndrome, type 1 meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome, type 2 meckel syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel syndrome, type 5 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meester-loeys syndrome http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts -megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts +megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://purl.obolibrary.org/obo/MONDO_0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy +melnick-needles syndrome http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome men2 phenotype: unclassified http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 menkes disease, mild http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease -mental retardation 21, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 3, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 30, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 46, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 49, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 58, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 63, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 9, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation 91, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, anterior maxillary protrusion, and strabismus http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 10 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 11 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 13 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 14 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 15 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 16 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 18 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 19 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 22 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 23 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 24 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 26 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 27 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 29 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 30 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 32 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 33 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 35 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 36 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 40 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 42 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 43 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 44 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 45 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 46 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 47 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 5 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 6 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, autosomal dominant 9 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, fra12a type http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease mental retardation, psychosocial http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability -mental retardation, psychosocial http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, syndromic, claes-jensen type, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 1 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 100 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 101 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 102 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 103 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 104 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 105 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 106 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 12 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 18 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 19 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 61 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 93 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 96 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation -mental retardation, x-linked 99 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy metachromatic leukodystrophy, mild http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy metachromatic leukodystrophy, severe http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia metaphyseal dysplasia without hypotrichosis http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia methylcrotonyl-coa carboxylase deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency methylmalonic acidemia http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency methylmalonic acidemia with homocystinuria http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria methylmalonic acidemia with homocystinuria cblc http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC methylmalonic aciduria and homocystinuria, cblc type, digenic http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC -methylmalonyl-coa epimerase deficiency http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency microcephalic osteodysplastic primordial dwarfism http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II -microcephalic osteodysplastic primordial dwarfism type 2 http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II +microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II microcephaly 24, primary, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome +microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome migraine, familial hemiplegic, 1 http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine migraine, familial hemiplegic, 2 http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine +migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 migraine, sporadic hemiplegic, with progressive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine mitochondrial complex 1 deficiency, mitochondrial type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency mitochondrial complex 1 deficiency, nuclear type 10 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency @@ -1769,22 +1221,28 @@ mitochondrial complex 4 deficiency, nuclear type 21 http://purl.obolibrary.org/o mitochondrial complex i deficiency http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency mitochondrial complex i deficiency, mitochondrial type 2 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency mitochondrial complex i deficiency, mitochondrial type 3 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency mitochondrial complex iv deficiency http://www.ebi.ac.uk/efo/EFO_0009135 leigh syndrome due to mitochondrial complex iv deficiency +mitochondrial complex iv deficiency, nuclear type 1 http://www.orpha.net/ORDO/Orphanet_254905 Isolated cytochrome C oxidase deficiency mitochondrial trifunctional protein deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency -molybdenum cofactor deficiency, complementation group a http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency -molybdenum cofactor deficiency, complementation group b http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency -molybdenum cofactor deficiency, complementation group c http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency -mucopolysaccharidosis type vi http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis -mucopolysaccharidosis type vii http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 -mucopolysaccharidosis, type ii, severe form http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis +monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes +mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 +mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 +mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B +mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C +mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A mucopolysaccharidosis, type vi, severe http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 +multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency multiple congenital anomalies-hypotonia-seizures syndrome 1 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 +multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome 3 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 +multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations +multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 multiple endocrine neoplasia, type 2b http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 +multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 multiple fibroadenomas of the breast http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma muscular dystrophy, congenital, due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency muscular dystrophy, limb-girdle, type 2r http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R -muscular dystrophy, limb-girdle, type 2y http://www.ebi.ac.uk/efo/EFO_0000310 limb-girdle muscular dystrophy myasthenia, limb-girdle, familial http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, 14 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome @@ -1794,6 +1252,7 @@ myasthenic syndrome, congenital, 18 http://www.orpha.net/ORDO/Orphanet_590 Conge myasthenic syndrome, congenital, 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, 20, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, 21, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 22 http://purl.obolibrary.org/obo/MONDO_0044299 myasthenic syndrome, congenital, 22 myasthenic syndrome, congenital, 23, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, 24, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, 25, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome @@ -1809,31 +1268,29 @@ myasthenic syndrome, congenital, 8 http://www.orpha.net/ORDO/Orphanet_590 Congen myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome myasthenic syndrome, slow-channel congenital http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myd88 deficiency http://www.orpha.net/ORDO/Orphanet_183713 Bacterial susceptibility due to TLR signaling pathway deficiency myh-associated polyposis http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis -myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy myoclonic encephalopathy http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy -myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astastic epilepsy myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy myofibrillar myopathy 1 http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy myofibrillar myopathy, zasp-related http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type myofibromatosis, infantile, 1 http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis myofibromatosis, infantile, 2 http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis +myopathy http://purl.obolibrary.org/obo/HP_0003198 Myopathy +myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy myopathy, areflexia, respiratory distress, and dysphagia, early-onset http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 -myopathy, centronuclear http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy -myopathy, centronuclear, 1 http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy -myopathy, centronuclear, 4 http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy myopathy, distal, 1 http://www.ebi.ac.uk/efo/EFO_0004145 myopathy myopathy, distal, 4 http://www.ebi.ac.uk/efo/EFO_0004145 myopathy myopathy, distal, 5 http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy nager syndrome http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome +nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome nemaline myopathy http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy nemaline myopathy 1 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy nemaline myopathy 10 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy -nemaline myopathy 11, autosomal recessive http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy -nemaline myopathy 2, autosomal recessive http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy -nemaline myopathy 3 http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy nemaline myopathy 4 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy nemaline myopathy 5 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy nemaline myopathy 6 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy @@ -1842,9 +1299,12 @@ nemaline myopathy 8 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopat nemaline myopathy 9 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy neoplasm of the breast http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm neoplasm of the parathyroid gland http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +nephronophthisis http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis +nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 12 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 13 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome nephronophthisis 18 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 20 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 3 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis @@ -1853,33 +1313,43 @@ nephronophthisis 7 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 8 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 9 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis-like nephropathy http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis-like nephropathy 2 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis -nephrotic syndrome type 15 http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome -nephrotic syndrome, idiopathic, steroid-resistant http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome +nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome neu-laxova syndrome 1 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome +neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 Neu-Laxova syndrome 2 neuroblastoma http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma neuroblastoma 1 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma neuroblastoma 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma neuroblastoma 3 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 +neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 +neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 +neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 +neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 +neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 1 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 10 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 5 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis -neuronal ceroid lipofuscinosis 6 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis neuronal ceroid-lipofuscinosis, recessive http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis -neuropathy hereditary sensory and autonomic type 1 http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 -neuropathy, hereditary sensory and autonomic, type vi http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 -neuropathy, hereditary sensory and autonomic, type viii http://www.orpha.net/ORDO/Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy -neutral lipid storage disease with myopathy http://www.orpha.net/ORDO/Orphanet_98908 Neutral lipid storage myopathy -newfoundland rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0012080 neuronopathy, distal hereditary motor, type 2B +neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type 7B +neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0013634 neuropathy, hereditary sensory, type 2C +neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy +niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A niemann-pick disease, type c http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C +niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C niemann-pick disease, type c2 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C night blindness, congenital stationary, type1i http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -non-syndromic male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy non-syndromic oligodontia http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis nonepidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma nonsyndromic deafness http://www.ebi.ac.uk/efo/EFO_0001063 deafness @@ -1893,17 +1363,22 @@ noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome noonan syndrome 3 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome noonan syndrome 4 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome noonan syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 noonan syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome noonan syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome noonan syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome noonan-like syndrome http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy +norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome +obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency +oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 oligodontia http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome oligodontia-colorectal cancer syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome -omodysplasia 1 http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia -omodysplasia 2 http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia +ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency orotic aciduria http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria oroticaciduria http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria -osler hemorrhagic telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta osteogenesis imperfecta type 10 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta osteogenesis imperfecta type 12 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta osteogenesis imperfecta type 7 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta @@ -1912,24 +1387,19 @@ osteogenesis imperfecta type 9 http://purl.obolibrary.org/obo/MONDO_0019019 oste osteogenesis imperfecta, type 18 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta osteogenesis imperfecta, type 19 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta osteogenesis imperfecta, type 20 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta -osteogenesis imperfecta, type 21 http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta osteogenesis imperfecta, type iic http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta osteogenesis imperfecta, type iii/iv http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta -osteogenesis imperfecta, type vi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xiii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xiv http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xv http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xvi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xvii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta -osteogenesis imperfecta, type xviii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 pain insensitivity http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 palmoplantar keratoderma, bothnian type http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic, focal http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic, focal 2 http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg parathyroid adenoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma parathyroid adenoma, somatic http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma parietal foramina 1 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina 2 parkinson disease http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease parkinson disease 1 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease parkinson disease 11 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease @@ -1942,15 +1412,17 @@ parkinson disease 22, autosomal dominant http://purl.obolibrary.org/obo/MONDO_00 parkinson disease 4 http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease parkinson disease 7 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease parkinson disease 8, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0008199 late-onset Parkinson disease parkinsonism http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -paroxysmal non-kinesigenic dyskinesia http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia +paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder +paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia partial congenital absence of teeth http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -pena-shokeir syndrome type i http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence -periventricular heterotopia http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia -periventricular nodular heterotopia 1 http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia peroxisomal biogenesis disorder 3b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder peroxisome biogenesis disorder 10a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) peroxisome biogenesis disorder 10b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorder 11a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome peroxisome biogenesis disorder 12a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome @@ -1961,6 +1433,7 @@ peroxisome biogenesis disorder 2b http://www.orpha.net/ORDO/Orphanet_79189 Perox peroxisome biogenesis disorder 3a http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorder 3a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome peroxisome biogenesis disorder 4a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) peroxisome biogenesis disorder 5b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorder 6a http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorder 6a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome @@ -1971,21 +1444,32 @@ peroxisome biogenesis disorder 8a http://www.orpha.net/ORDO/Orphanet_912 Zellweg peroxisome biogenesis disorder 8b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorders http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorders, zellweger syndrome spectrum http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder -persistent hyperinsulinemic hypoglycemia of infancy http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism +perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome +peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-CDG +pgm1-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation +pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome +phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency phosphoglycerate dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form +pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome +pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus pili torti-deafness syndrome http://www.orpha.net/ORDO/Orphanet_123 Björnstad syndrome pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome -pitt-hopkins-like syndrome 1 http://www.orpha.net/ORDO/Orphanet_221150 OBSOLETE: Pitt-Hopkins-like syndrome +pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome +pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome +pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris +pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy polg-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder polg2-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder -polydactyly, preaxial ii http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb +polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 +polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -popliteal pterygium syndrome lethal type http://www.orpha.net/ORDO/Orphanet_1234 Bartsocas-Papas syndrome -preaxial polydactyly http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers -preaxial polydactyly 4 http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia preeclampsia/eclampsia 4 http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia preeclampsia/eclampsia 5 http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia +premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 1 http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 premature ovarian failure 10 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency premature ovarian failure 11 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency premature ovarian failure 12 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency @@ -2003,12 +1487,18 @@ premature ovarian failure 6 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian premature ovarian failure 7 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency premature ovarian failure 8 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency premature ovarian failure 9 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea +primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 23 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 24 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 25 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy primary familial hypertrophic cardiomyopathy http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy primary familial polycythemia due to epo receptor mutation http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation primary ovarian insufficiency http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001999 idiopathic pulmonary arterial hypertension primary pulmonary hypertension 1 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension primary pulmonary hypertension 2 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension primary pulmonary hypertension 3 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension @@ -2016,55 +1506,68 @@ primary pulmonary hypertension 4 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary progressive familial heart block http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect progressive familial heart block type 1a http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect progressive familial heart block type 1b http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial heart block type ib http://www.orpha.net/ORDO/Orphanet_871 Hereditary progressive cardiac conduction defect progressive familial heart block, type 1a http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 +progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome progressive myoclonic epilepsy, x-linked http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 progressive myoclonus epilepsy with ataxia http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood +prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency prolonged qt interval http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval -propionicacidemia http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia -propionyl-coa carboxylase deficiency http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia +propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia prostate cancer http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma +prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer prostate cancer, hereditary, 12 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer prostate cancer, hereditary, 13 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer prostate cancer, hereditary, 2 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer prostate cancer, hereditary, 9 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer prostate cancer, somatic http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma prostate cancer/brain cancer susceptibility http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/MONDO_0060729 protoporphyria, erythropoietic, 2 proximal muscle weakness http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum pseudoxanthoma elasticum, forme fruste http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum psoriasis http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 psoriasis susceptibility 1 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis psoriasis susceptibility 13 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis psoriasis susceptibility 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome pten hamartoma tumor syndromes http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome pulmonary arterial hypertension http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 pulmonary hypertension, neonatal, susceptibility to http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 pulmonary hypertension, primary, 2 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension pulmonary hypertension, primary, 3 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension pulmonary hypertension, primary, 4 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency +rabson-mendenhall syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome +rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy renal carnitine transport defect http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency +renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma renal dysplasia and retinal aplasia http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia http://www.orpha.net/ORDO/Orphanet_140969 Saldino-Mainzer syndrome -renal tubular acidosis, autosomal dominant http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis -renal tubular acidosis, distal, autosomal dominant http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis retinal cone dystrophy 3a http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia -retinal cone dystrophy 3b http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder -retinal cone dystrophy 4 http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration retinal dysplasia http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +retinal dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy retinal dystrophy and obesity http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinal dystrophy, early-onset severe http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis retinal dystrophy, early-onset severe, lrat-related http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 1 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 10 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 12 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 13 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 14 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 15 http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa retinitis pigmentosa 17 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 18 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 19 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa @@ -2083,6 +1586,7 @@ retinitis pigmentosa 35 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis p retinitis pigmentosa 36 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 37 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 38 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 4 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 40 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 41 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa @@ -2114,6 +1618,7 @@ retinitis pigmentosa 67 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis p retinitis pigmentosa 68 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 69 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 7 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 70 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 72 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 73 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa @@ -2123,34 +1628,45 @@ retinitis pigmentosa 76 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis p retinitis pigmentosa 77 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 78 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 79 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 81 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 82 with or without situs inversus http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa retinitis pigmentosa 83 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 84 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 85 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 86 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 87 with choroidal involvement http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 retinitis pigmentosa 9 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa with or without situs inversus http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa, concentric http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma +rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor rhabdoid tumor predisposition syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor +rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0013224 rhabdoid tumor predisposition syndrome 2 right ventricular cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy ritscher-schinzel syndrome http://www.orpha.net/ORDO/Orphanet_7 3C syndrome ritscher-schinzel syndrome 1 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome ritscher-schinzel syndrome 2 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome ritscher-schinzel syndrome 3 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome -robinow sorauf syndrome http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome robinow syndrome, autosomal recessive 2 http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome robinow syndrome, autosomal recessive, with brachy-syn-polydactyly http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy romano-ward syndrome http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome ryr1-related disorder http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders -schimke immunoosseous dysplasia http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia +ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders +saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly +schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia +schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy +schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome schwartz-jampel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome sclerosing cholangitis, neonatal http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure seizures http://purl.obolibrary.org/obo/HP_0001250 Seizure seizures, benign familial infantile, 2 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +seizures, benign familial infantile, 3 http://purl.obolibrary.org/obo/MONDO_0011904 seizures, benign familial infantile, 3 seizures, benign familial infantile, 5 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures seizures, benign familial infantile, 6 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures seizures, cortical blindness, and microcephaly syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome @@ -2164,12 +1680,18 @@ senior-loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loke senior-loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome senior-loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome senior-loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -short rib polydactyly syndrome 5 http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type -short rib-polydactyly syndrome, majewski type http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia +septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum +severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy +severe myoclonic epilepsy in infancy http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome +severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly +severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked myotubular myopathy +short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome short rib-polydactyly syndrome, verma-naumoff type http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +short stature http://purl.obolibrary.org/obo/HP_0004322 Short stature short stature due to growth hormone secretagogue receptor deficiency http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency short stature with nonspecific skeletal abnormalities http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type -short-rib polydactyly syndrome type i http://www.orpha.net/ORDO/Orphanet_93270 Short rib-polydactyly syndrome, Saldino-Noonan type short-rib polydactyly syndrome type iii http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type short-rib thoracic dysplasia 10 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome short-rib thoracic dysplasia 11 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type @@ -2177,16 +1699,18 @@ short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibra short-rib thoracic dysplasia 15 with polydactyly http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome -short-rib thoracic dysplasia 3 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type short-rib thoracic dysplasia 7 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type short-rib thoracic dysplasia 8 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 Singleton-Merten syndrome 1 singleton-merten syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age solitary median maxillary central incisor syndrome http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome sotos syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome -spastic ataxia 5, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 spastic ataxia charlevoix-saguenay type http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay -spastic paraplegia 11, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia spastic paraplegia 28, autosomal recessive http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 spastic paraplegia 30, autosomal recessive http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 spastic paraplegia 33, autosomal dominant http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia @@ -2196,90 +1720,100 @@ spastic paraplegia 47, autosomal recessive http://purl.obolibrary.org/obo/HP_000 spastic paraplegia 48, autosomal recessive http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 spastic paraplegia 49, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia spastic paraplegia 50, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia -spastic paraplegia 51, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia spastic paraplegia 53, autosomal recessive http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 -spastic paraplegia 61, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia -spastic paraplegia 63, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia -spastic paraplegia 77, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia spastic paraplegia 78, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia spastic paraplegia 79, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia spastic paraplegia and psychomotor retardation with or without seizures http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome -spermatogenic failure 10 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 18 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 19 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 20 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 27 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 3 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 39 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 40 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -spermatogenic failure 41 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 sphingolipid activator protein 1 deficiency http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy spinal muscular atrophy, distal, autosomal recessive, 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 spinal muscular atrophy, distal, autosomal recessive, 5 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 spinocerebellar ataxia autosomal recessive with axonal neuropathy http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia with axonal neuropathy type 1 -spinocerebellar ataxia, autosomal recessive 8 http://www.orpha.net/ORDO/Orphanet_88644 Autosomal recessive ataxia, Beauce type spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia with axonal neuropathy type 1 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia with axonal neuropathy type 1 -spinocerebellar ataxia, dominant http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia -stargardt disease 1 http://www.orpha.net/ORDO/Orphanet_827 Stargardt disease +spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type +squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma +squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma +stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease stargardt disease 3 http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease stargardt disease 4 http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease stargardt disease, recessive http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 +steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome +sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C t-cell immunodeficiency, congenital alopecia and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy tbc1 domain family member 24 http://purl.obolibrary.org/obo/PR_000016108 TBC1 domain family member 24 +teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 Teebi hypertelorism syndrome 1 +telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 telangiectasia, hereditary hemorrhagic, type 2 http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia telangiectasia, hereditary hemorrhagic, type 5 http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia thoracic aortic aneurysm and aortic dissection http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection thrombophilia due to activated protein c resistance http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency +thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency thrombophilia due to protein c deficiency, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency -thrombophilia, hereditary, due to protein c deficiency, autosomal dominant http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency -thrombophilia, hereditary, due to protein c deficiency, autosomal recessive http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency -thyroid dyshormonogenesis 1 http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis +tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy +tip-toe gait http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait tooth agenesis http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, 4 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, 7 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, 8 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, 9 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, x-linked, 1 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders +transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency transcolabamin ii deficiency http://www.orpha.net/ORDO/Orphanet_859 Transcobalamin deficiency treacher collins syndrome http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome treacher collins syndrome 1 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome treacher collins syndrome 2 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome treacher collins syndrome 4 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome -tumor susceptibility linked to germline bap1 mutations http://www.orpha.net/ORDO/Orphanet_289539 BAP1-related tumor predisposition syndrome +troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome +tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 tyrosine kinase 2 deficiency http://www.orpha.net/ORDO/Orphanet_331226 Susceptibility to infection due to TYK2 deficiency undetermined early-onset epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy unverricht-lundborg syndrome http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 usher syndrome type 1d http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A usher syndrome type 3b http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 1b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 1c http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 1d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 1f http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 1g http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 1j http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 2c http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 2d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome -usher syndrome, type 3b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome usher syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome usher syndrome, type id/f, digenic http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma +vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy velocardiofacial syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome ventral septal defect http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect ventricular tachycardia, catecholaminergic polymorphic, 6 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency +visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment vitelliform macular dystrophy 1 http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy -weill-marchesani syndrome 2 http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome -weill-marchesani syndrome 4 http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome +von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease +wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease +weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome +weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive wfs1-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome x-linked agammaglobulinemia http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia x-linked cone-rod dystrophy 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome http://www.ebi.ac.uk/efo/EFO_0001063 deafness +x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy +xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum xeroderma pigmentosum group a http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum xeroderma pigmentosum, group e http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum xeroderma pigmentosum, group f http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency zellweger spectrum disorders http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome zellweger syndrome http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome zellweger syndrome 2 http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -zonular pulverulent cataract 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract diff --git a/tests/pipelines/test_curation_pipelines.sh b/tests/pipelines/test_curation_pipelines.sh index df23a216..e9632fdf 100644 --- a/tests/pipelines/test_curation_pipelines.sh +++ b/tests/pipelines/test_curation_pipelines.sh @@ -29,6 +29,7 @@ nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ diff ${BATCH_ROOT}/curator_comments.tsv ${BATCH_ROOT_BASE}/expected/curator_comments.tsv diff -I '^#generated-date' ${BATCH_ROOT}/trait_names_to_ontology_mappings.tsv ${BATCH_ROOT_BASE}/expected/trait_names_to_ontology_mappings.tsv +diff ${BATCH_ROOT}/obsolete_mappings.tsv ${BATCH_ROOT_BASE}/expected/obsolete_mappings.tsv cd ${CWD} rm -r ${BATCH_ROOT} From b415d717f76c6ffce6e625015c2e7f4e5fe64de9 Mon Sep 17 00:00:00 2001 From: April Shen Date: Thu, 12 Feb 2026 11:40:17 +0000 Subject: [PATCH 7/7] add counts when creating latest mappings --- bin/trait_mapping/create_latest_mappings.py | 57 ++++++++++++++++--- pipelines/export_curation_spreadsheet.nf | 3 +- .../resources/expected/trait_counts.yml | 5 ++ tests/pipelines/test_curation_pipelines.sh | 1 + .../test_create_latest_mappings.py | 22 +++++-- 5 files changed, 76 insertions(+), 12 deletions(-) create mode 100644 tests/pipelines/resources/expected/trait_counts.yml diff --git a/bin/trait_mapping/create_latest_mappings.py b/bin/trait_mapping/create_latest_mappings.py index 3d87d968..38b81977 100755 --- a/bin/trait_mapping/create_latest_mappings.py +++ b/bin/trait_mapping/create_latest_mappings.py @@ -3,19 +3,53 @@ from copy import deepcopy from datetime import datetime +import yaml + from cmat.output_generation.clinvar_to_evidence_strings import load_ontology_mapping from cmat.trait_mapping.ols import is_current_and_in_ontology OUTPUT_FILE_NAME = 'trait_names_to_ontology_mappings.tsv' OBSOLETE_FILE_NAME = 'obsolete_mappings.tsv' +COUNTS_FILE_NAME = 'trait_counts.yml' def create_latest_mappings(automated_mappings, curated_mappings, previous_mappings, target_ontology): # Combine automated, curated and previous mappings + # Also count how many traits have their mappings updated or added by automation or curation (before filtering out + # duplicates or obsolete terms) + counts = { + 'n_previous_unchanged': 0, + 'n_automated_updated': 0, + 'n_automated_new': 0, + 'n_curated_updated': 0, + 'n_curated_new': 0 + } latest_mappings = deepcopy(previous_mappings) - latest_mappings.update(automated_mappings) - latest_mappings.update(curated_mappings) + counts['n_previous_unchanged'] = len(previous_mappings) + for trait_name in automated_mappings: + if trait_name in latest_mappings: + if latest_mappings[trait_name] != automated_mappings[trait_name]: + latest_mappings[trait_name] = automated_mappings[trait_name] + counts['n_automated_updated'] += 1 + counts['n_previous_unchanged'] -= 1 + else: + latest_mappings[trait_name] = automated_mappings[trait_name] + counts['n_automated_new'] += 1 + for trait_name in curated_mappings: + if trait_name in latest_mappings: + if latest_mappings[trait_name] != curated_mappings[trait_name]: + latest_mappings[trait_name] = curated_mappings[trait_name] + counts['n_curated_updated'] += 1 + if trait_name in automated_mappings and previous_mappings[trait_name] != automated_mappings[trait_name]: + counts['n_automated_updated'] -= 1 + else: + counts['n_previous_unchanged'] -= 1 + else: + latest_mappings[trait_name] = curated_mappings[trait_name] + counts['n_curated_new'] += 1 + + assert sum(counts.values()) == len(latest_mappings), 'Trait counts not consistent' # Ensure no duplicate rows or obsolete mappings current_rows = set() @@ -29,10 +63,10 @@ def create_latest_mappings(automated_mappings, curated_mappings, previous_mappin current_rows = sorted(list(current_rows)) obsolete_rows = sorted(list(obsolete_rows)) - return current_rows, obsolete_rows + return current_rows, obsolete_rows, counts -def output_files(current_mappings, obsolete_mappings, target_ontology): +def output_and_report(current_mappings, obsolete_mappings, target_ontology, counts): with open(OUTPUT_FILE_NAME, 'w') as out_file: out_file.write(f'#generated-date={datetime.today().strftime("%Y-%m-%d")}\n') out_file.write(f'#ontology=${target_ontology}\n') @@ -44,6 +78,15 @@ def output_files(current_mappings, obsolete_mappings, target_ontology): for trait_name, uri, label in obsolete_mappings: obs_file.write(f'{trait_name}\t{uri}\t{label}\n') + print(f'Number of traits with mappings:') + print(f'\tUnchanged from previous: {counts["n_previous_unchanged"]}') + print(f'\tUpdated by automation: {counts["n_automated_updated"]}') + print(f'\tAdded by automation: {counts["n_automated_new"]}') + print(f'\tUpdated by curation: {counts["n_curated_updated"]}') + print(f'\tAdded by curation: {counts["n_curated_new"]}') + with open(COUNTS_FILE_NAME, 'w') as counts_file: + yaml.dump(counts, counts_file) + if __name__ == '__main__': parser = argparse.ArgumentParser( @@ -57,6 +100,6 @@ def output_files(current_mappings, obsolete_mappings, target_ontology): curated_mappings, _, _ = load_ontology_mapping(args.curated) previous_mappings, target_ontology, _ = load_ontology_mapping(args.previous) - current_mappings, obsolete_mappings = create_latest_mappings(automated_mappings, curated_mappings, - previous_mappings, target_ontology) - output_files(current_mappings, obsolete_mappings, target_ontology) + current_mappings, obsolete_mappings, counts = create_latest_mappings(automated_mappings, curated_mappings, + previous_mappings, target_ontology) + output_and_report(current_mappings, obsolete_mappings, target_ontology, counts) diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index 285557b0..4dfaafd5 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -83,7 +83,7 @@ process createLatestMappings { publishDir "${curationRoot}", overwrite: true, mode: "copy", - pattern: "*.tsv" + pattern: "*.{tsv,yml}" input: val automatedMappings @@ -93,6 +93,7 @@ process createLatestMappings { output: path "trait_names_to_ontology_mappings.tsv", emit: finalMappings path "obsolete_mappings.tsv", emit: obsoleteMappings + path "trait_counts.yml", emit: counts script: """ diff --git a/tests/pipelines/resources/expected/trait_counts.yml b/tests/pipelines/resources/expected/trait_counts.yml new file mode 100644 index 00000000..06213c4a --- /dev/null +++ b/tests/pipelines/resources/expected/trait_counts.yml @@ -0,0 +1,5 @@ +n_automated_new: 103 +n_automated_updated: 135 +n_curated_new: 0 +n_curated_updated: 25 +n_previous_unchanged: 1942 diff --git a/tests/pipelines/test_curation_pipelines.sh b/tests/pipelines/test_curation_pipelines.sh index e9632fdf..2d3bdb09 100644 --- a/tests/pipelines/test_curation_pipelines.sh +++ b/tests/pipelines/test_curation_pipelines.sh @@ -30,6 +30,7 @@ nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ diff ${BATCH_ROOT}/curator_comments.tsv ${BATCH_ROOT_BASE}/expected/curator_comments.tsv diff -I '^#generated-date' ${BATCH_ROOT}/trait_names_to_ontology_mappings.tsv ${BATCH_ROOT_BASE}/expected/trait_names_to_ontology_mappings.tsv diff ${BATCH_ROOT}/obsolete_mappings.tsv ${BATCH_ROOT_BASE}/expected/obsolete_mappings.tsv +diff ${BATCH_ROOT}/trait_counts.yml ${BATCH_ROOT_BASE}/expected/trait_counts.yml cd ${CWD} rm -r ${BATCH_ROOT} diff --git a/tests/trait_mapping/test_create_latest_mappings.py b/tests/trait_mapping/test_create_latest_mappings.py index 30c6f905..82f571e0 100644 --- a/tests/trait_mapping/test_create_latest_mappings.py +++ b/tests/trait_mapping/test_create_latest_mappings.py @@ -27,10 +27,17 @@ def test_create_latest_mappings(): with patch('bin.trait_mapping.create_latest_mappings.is_current_and_in_ontology') as m_is_current: m_is_current.side_effect = lambda uri, ont: False if 'obsolete' in uri else True - current_mappings, obsolete_mappings = create_latest_mappings(automated_mappings, curated_mappings, - previous_mappings, 'EFO') + current_mappings, obsolete_mappings, counts = create_latest_mappings(automated_mappings, curated_mappings, + previous_mappings, 'EFO') assert obsolete_mappings == [('A', 'http://www.ebi.ac.uk/efo/EFO_obsolete', 'obsolete')] assert current_mappings == [(ch, f'http://www.ebi.ac.uk/efo/EFO_{ch}', ch) for ch in 'ABCDE'] + assert counts == { + 'n_previous_unchanged': 2, + 'n_automated_updated': 1, + 'n_automated_new': 0, + 'n_curated_updated': 1, + 'n_curated_new': 1 + } def test_create_latest_mappings_multiples(): @@ -49,8 +56,8 @@ def test_create_latest_mappings_multiples(): with patch('bin.trait_mapping.create_latest_mappings.is_current_and_in_ontology') as m_is_current: m_is_current.return_value = True - current_mappings, obsolete_mappings = create_latest_mappings(automated_mappings, curated_mappings, - previous_mappings, 'EFO') + current_mappings, obsolete_mappings, counts = create_latest_mappings(automated_mappings, curated_mappings, + previous_mappings, 'EFO') assert obsolete_mappings == [] assert current_mappings == [ ('A', 'http://www.ebi.ac.uk/efo/EFO_A3', 'A3'), @@ -58,3 +65,10 @@ def test_create_latest_mappings_multiples(): ('B', 'http://www.ebi.ac.uk/efo/EFO_B3', 'B3'), ('C', 'http://www.ebi.ac.uk/efo/EFO_C1', 'C1') ] + assert counts == { + 'n_previous_unchanged': 1, + 'n_automated_updated': 0, + 'n_automated_new': 0, + 'n_curated_updated': 2, + 'n_curated_new': 0 + }