diff --git a/bin/trait_mapping/check_latest_mappings.py b/bin/trait_mapping/check_latest_mappings.py new file mode 100644 index 00000000..3fff8b22 --- /dev/null +++ b/bin/trait_mapping/check_latest_mappings.py @@ -0,0 +1,58 @@ +#!/usr/bin/env python3 + +import argparse +import csv +import json +import os +import re + + +def get_ontology_id_regex(ot_schema_file): + if not ot_schema_file: + return '.*' + with open(ot_schema_file, 'r') as f: + schema = json.load(f) + return schema['definitions']['diseaseFromSourceMappedId']['pattern'] + + +def check_mappings(mappings_file, ot_schema_file): + """ + Check mappings for conformity against regex in latest OT schema. + Outputs a new mappings file and a file of the mappings that have been removed. + + :param mappings_file: path to mappings file (tab-delimited, no header) + :param ot_schema_file: path to Open Targets JSON schema + """ + with open(mappings_file, 'r') as f: + reader = csv.reader(f, delimiter='\t') + mappings = list(reader) + ontology_id_regex = get_ontology_id_regex(ot_schema_file) + updated_mappings = set() + nonmatching_mappings = set() + + for trait_name, uri, label in mappings: + if re.match(ontology_id_regex, uri.split('/')[-1]): + updated_mappings.add((label, uri)) + else: + nonmatching_mappings.add((label, uri)) + + # Output files + filename = '.'.join(os.path.basename(mappings_file).split('.')[:-1]) + with open(f'{filename}_nonmatching.tsv', 'w+') as outfile: + writer = csv.writer(outfile, delimiter='\t') + print(f'Removed {len(nonmatching_mappings)} nonmatching mappings') + writer.writerows(sorted(list(nonmatching_mappings))) + + with open(f'{filename}_updated.tsv', 'w+') as outfile: + writer = csv.writer(outfile, delimiter='\t') + print(f'{len(updated_mappings)} mappings remaining') + writer.writerows(sorted(list(updated_mappings))) + + +if __name__ == '__main__': + parser = argparse.ArgumentParser(description='Check latest mappings for obsolete terms and (optionally) conformity' + ' against latest OT schema') + parser.add_argument('--mappings-file', required=True, help='File of latest ontology mappings to process') + parser.add_argument('--ot-schema', required=True, help='Open Targets schema JSON') + args = parser.parse_args() + check_mappings(args.mappings_file, args.ot_schema) diff --git a/pipelines/annotation_pipeline.nf b/pipelines/annotation_pipeline.nf index 1dd2d9a1..a1054696 100644 --- a/pipelines/annotation_pipeline.nf +++ b/pipelines/annotation_pipeline.nf @@ -2,6 +2,7 @@ nextflow.enable.dsl=2 +include { downloadClinvar; downloadJsonSchema } from './utils.nf' def helpMessage() { log.info""" @@ -57,7 +58,7 @@ workflow { if (params.schema != null) { // Open Targets evidence string output - downloadJsonSchema() + downloadJsonSchema(params.schema) // Get start/end indices to break XML into chunks countClinvarRecords(clinvarXml) .map { strN -> @@ -94,39 +95,6 @@ workflow { } } -/* - * Download ClinVar data, using the most recent XML dump. - */ -process downloadClinvar { - label 'small_mem' - - output: - path "clinvar.xml.gz", emit: clinvarXml - - script: - """ - wget -O clinvar.xml.gz \ - https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/RCV_release/ClinVarRCVRelease_00-latest.xml.gz - """ -} - -/* - * Download the Open Targets JSON schema. - */ -process downloadJsonSchema { - label 'short_time' - label 'small_mem' - - output: - path "opentargets-${params.schema}.json", emit: jsonSchema - - script: - """ - wget -O opentargets-${params.schema}.json \ - https://raw.githubusercontent.com/opentargets/json_schema/${params.schema}/schemas/disease_target_evidence.json - """ -} - /* * Run simple variants (SNPs and other variants with complete coordinates) through VEP and map them * to genes and functional consequences. diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index 5a2793e5..ac52d7e9 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -2,7 +2,7 @@ nextflow.enable.dsl=2 -include { getTargetOntology } from './utils.nf' +include { getTargetOntology; downloadJsonSchema } from './utils.nf' def helpMessage() { @@ -13,6 +13,7 @@ def helpMessage() { --curation_root Directory for current batch --input_csv Input csv file --mappings Current mappings file (optional, will use a default path if omitted) + --schema Open Targets JSON schema version (optional, will check term IDs match schema if included) --with_feedback Whether to generate EFO/Zooma feedback and final symlinking (default false) """ } @@ -21,6 +22,7 @@ params.help = null params.curation_root = null params.input_csv = null params.mappings = "\${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv" +params.schema = null params.with_feedback = false if (params.help) { @@ -37,13 +39,25 @@ codeRoot = "${projectDir}/.." * Main workflow. */ workflow { + // Generate latest mappings exportTable() combineManualAndAutomated(exportTable.out.finishedMappings) getTargetOntology(params.mappings) stripMappingsHeader() mergeWithLatestMappings(combineManualAndAutomated.out.newMappings, stripMappingsHeader.out.previousMappings) - checkDuplicates(mergeWithLatestMappings.out.newMappings) - addMappingsHeader(checkDuplicates.out.duplicatesOk, mergeWithLatestMappings.out.newMappings, getTargetOntology.out.targetOntology) + + // Perform checks on latest mappings + if (params.schema != null) { + downloadJsonSchema(params.schema) + checkMappings(mergeWithLatestMappings.out.newMappings, downloadJsonSchema.out.jsonSchema) + updatedMappings = checkMappings.out.updatedMappings + } else { + updatedMappings = mergeWithLatestMappings.out.newMappings + } + checkDuplicates(updatedMappings) + + // Finalise latest mappings file + addMappingsHeader(checkDuplicates.out.duplicatesOk, updatedMappings, getTargetOntology.out.targetOntology) if (params.with_feedback) { generateZoomaFeedback(addMappingsHeader.out.finalMappings) updateLinks(addMappingsHeader.out.finalMappings, generateZoomaFeedback.out.zoomaFeedback) @@ -168,6 +182,33 @@ process generateZoomaFeedback { """ } +/* + * Check latest mappings conformity against latest OT schema. + */ +process checkMappings { + label 'short_time' + label 'small_mem' + publishDir "${curationRoot}", + overwrite: true, + mode: "copy", + pattern: "*_nonmatching.tsv" + + input: + path mappingsFile + path schemaFile + + output: + path "${mappingsFile.getBaseName()}_updated.tsv", emit: updatedMappings + path "${mappingsFile.getBaseName()}_nonmatching.tsv", emit: nonmatchingMappings + + script: + """ + \${PYTHON_BIN} ${codeRoot}/bin/trait_mapping/check_latest_mappings.py \ + --mappings-file ${mappingsFile} \ + --ot-schema ${schemaFile} + """ +} + /* * Check there are no complete duplicates in the final mappings file. */ diff --git a/pipelines/generate_curation_spreadsheet.nf b/pipelines/generate_curation_spreadsheet.nf index cac6cb97..df45f1ba 100644 --- a/pipelines/generate_curation_spreadsheet.nf +++ b/pipelines/generate_curation_spreadsheet.nf @@ -2,7 +2,7 @@ nextflow.enable.dsl=2 -include { getTargetOntology } from './utils.nf' +include { getTargetOntology; downloadClinvar } from './utils.nf' def helpMessage() { @@ -55,22 +55,6 @@ workflow { createCurationTable(collectCurationTraits.out.curationTraits) } -/* - * Download ClinVar data, using the most recent XML dump. - */ -process downloadClinvar { - label 'small_mem' - - output: - path "clinvar.xml.gz", emit: clinvarXml - - script: - """ - wget -O clinvar.xml.gz \ - https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/RCV_release/ClinVarRCVRelease_00-latest.xml.gz - """ -} - /* * Parse traits from ClinVar XML. */ diff --git a/pipelines/utils.nf b/pipelines/utils.nf index bf61a392..59d3ee88 100644 --- a/pipelines/utils.nf +++ b/pipelines/utils.nf @@ -17,3 +17,39 @@ process getTargetOntology { ONTOLOGY=\${ONTOLOGY:-EFO} """ } + +/* + * Download ClinVar data, using the most recent XML dump. + */ +process downloadClinvar { + label 'small_mem' + + output: + path "clinvar.xml.gz", emit: clinvarXml + + script: + """ + wget -O clinvar.xml.gz \ + https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/RCV_release/ClinVarRCVRelease_00-latest.xml.gz + """ +} + +/* + * Download the Open Targets JSON schema. + */ +process downloadJsonSchema { + label 'short_time' + label 'small_mem' + + input: + val schemaVersion + + output: + path "opentargets-${schemaVersion}.json", emit: jsonSchema + + script: + """ + wget -O opentargets-${schemaVersion}.json \ + https://raw.githubusercontent.com/opentargets/json_schema/${schemaVersion}/schemas/disease_target_evidence.json + """ +} diff --git a/tests/pipelines/resources/expected/automated_trait_mappings.tsv b/tests/pipelines/resources/expected/automated_trait_mappings.tsv index 91def29d..83686216 100644 --- a/tests/pipelines/resources/expected/automated_trait_mappings.tsv +++ b/tests/pipelines/resources/expected/automated_trait_mappings.tsv @@ -176,7 +176,7 @@ developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MO 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_0014505 developmental and epileptic encephalopathy, 27 +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 @@ -261,7 +261,6 @@ frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontom 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 epilepsy with febrile seizures plus, type 7 http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 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 @@ -301,9 +300,11 @@ herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo 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 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 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 @@ -320,6 +321,7 @@ hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_001139 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_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 @@ -328,44 +330,58 @@ immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficienc 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 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 6 http://purl.obolibrary.org/obo/MONDO_0013509 intellectual disability, autosomal dominant 6 +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 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 +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 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 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 +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 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 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.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_0018921 Meckel 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 @@ -382,6 +398,7 @@ microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary 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_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 @@ -401,8 +418,12 @@ 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 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-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0013163 nephronophthisis-like nephropathy 1 +nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2 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 @@ -418,7 +439,10 @@ neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org 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 +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 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 @@ -446,6 +470,7 @@ pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus 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 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 @@ -457,7 +482,7 @@ primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary 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 primary pulmonary hypertension +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 @@ -480,10 +505,15 @@ retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio 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_1060144 retinitis pigmentosa 7, digenic +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 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_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 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 @@ -519,6 +549,7 @@ sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://p 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 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 @@ -526,10 +557,13 @@ tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-relate transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency 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_0008612 tuberous sclerosis 1 +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 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency @@ -542,3 +576,4 @@ wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott- 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 diff --git a/tests/pipelines/resources/expected/google_sheets_table.tsv b/tests/pipelines/resources/expected/google_sheets_table.tsv index ffee8f7f..171e4c87 100644 --- a/tests/pipelines/resources/expected/google_sheets_table.tsv +++ b/tests/pipelines/resources/expected/google_sheets_table.tsv @@ -1,42 +1,7 @@ gc1/gc2 polymorphism 1 NT expansion -inclusion body myopathy, recessive 1 NT expansion http://www.orpha.net/ORDO/Orphanet_602|GNE myopathy|TOKEN_MATCH_SYNONYM|EFO_CURRENT -juvenile polyposis 1 NT expansion http://purl.obolibrary.org/obo/MONDO_0017380|juvenile polyposis syndrome|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0017380|juvenile polyposis syndrome|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/NCIT_C7754|Juvenile Polyposis Syndrome|EXACT_MATCH_SYNONYM|NOT_MONDO_HP_EFO -limb-girdle muscular dystrophy, recessive 1 NT expansion http://purl.obolibrary.org/obo/MONDO_0015152|autosomal recessive limb-girdle muscular dystrophy|TOKEN_MATCH_LABEL|EFO_CURRENT -lissencephaly, recessive 1 NT expansion http://www.ebi.ac.uk/efo/EFO_0011063|recessive lissencephaly|TOKEN_MATCH_LABEL|EFO_CURRENT -tuberous sclerosis 2 4 http://purl.obolibrary.org/obo/MONDO_0001734|tuberous sclerosis|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013199|tuberous sclerosis 2|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/NCIT_C75331|Tuberous Sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_0080325|tuberous sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/613254|Tuberous sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/C566021|Tuberous Sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/12363|TSC2|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013199|tuberous sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013199|tuberous sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013199|tuberous sclerosis 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -niemann-pick disease, type c1 3 http://purl.obolibrary.org/obo/MONDO_0018982|Niemann-Pick disease type C|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0009757|Niemann-Pick disease, type C1|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/NCIT_C126864|Niemann-Pick Disease, Type C1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/7897|NPC1|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/D052556|Niemann-Pick Disease, Type C|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0009757|Niemann-Pick disease, type C1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -long qt syndrome 3 http://purl.obolibrary.org/obo/HP_0001657|Prolonged QT interval|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0002442|long QT syndrome|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/MONDO_0019171|familial long QT syndrome|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0001657|Prolonged QT interval|EXACT_MATCH_SYNONYM|EFO_CURRENT http://snomed.info/id/9651007|Long QT syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/OMIT_0009216|Long QT Syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/NCIT_C34786|Long QT Syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_2843|long QT syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/CVDO_0000473|long QT syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/D008133|Long QT Syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MP_0003233|prolonged QT interval|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0002442|long QT syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -inherited immunodeficiency diseases 2 http://id.nlm.nih.gov/mesh/D000081207|Primary Immunodeficiency Diseases|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO -normal pregnancy 2 http://www.ebi.ac.uk/efo/EFO_0002950|pregnancy|TOKEN_MATCH_LABEL|EFO_CURRENT http://snomed.info/id/72892002|Normal pregnancy|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/NCIT_C92933|Normal Pregnancy|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -nephrotic syndrome, type 2 2 http://purl.obolibrary.org/obo/MONDO_0019006|familial idiopathic steroid-resistant nephrotic syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0010974|nephrotic syndrome, type 2|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://id.nlm.nih.gov/mesh/C535761|Nephrosis, congenital|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0010974|nephrotic syndrome, type 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -malignant neoplasm of body of uterus 2 http://www.ebi.ac.uk/efo/EFO_0003859|uterine neoplasm|TOKEN_MATCH_LABEL|EFO_CURRENT http://snomed.info/id/371972005|Malignant neoplasm of body of uterus|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://www.ebi.ac.uk/efo/EFO_0007532|uterine corpus cancer|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0006003|uterine corpus cancer|EXACT_MATCH_SYNONYM|MONDO_HP_NOT_EFO -tuberous sclerosis 1 2 http://purl.obolibrary.org/obo/MONDO_0001734|tuberous sclerosis|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008612|tuberous sclerosis 1|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/NCIT_C75122|Tuberous Sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_0080324|tuberous sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/191100|Tuberous sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/C565346|Tuberous Sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/12362|TSC1|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0008612|tuberous sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0008612|tuberous sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0008612|tuberous sclerosis 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -nephronophthisis 15 1 http://purl.obolibrary.org/obo/MONDO_0017842|Senior-Loken syndrome|TOKEN_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013917|nephronophthisis 15|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/DOID_0111123|nephronophthisis 15|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/614845|Nephronophthisis 15|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013917|nephronophthisis 15|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -zap70-related severe combined immunodeficiency 1 http://purl.obolibrary.org/obo/MONDO_0010023|combined immunodeficiency due to ZAP70 deficiency|TOKEN_MATCH_LABEL|EFO_CURRENT http://id.nlm.nih.gov/mesh/C536722|ZAP70 deficiency|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO +generalized epilepsy with febrile seizures plus, type 7 2 http://www.orpha.net/ORDO/Orphanet_36387|Genetic epilepsy with febrile seizure plus|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013470|generalized epilepsy with febrile seizures plus, type 7|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://id.nlm.nih.gov/mesh/C567827|Generalized Epilepsy With Febrile Seizures Plus, 7|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013470|generalized epilepsy with febrile seizures plus, type 7|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO corneal dystrophy, recessive 1 -nephronophthisis-like nephropathy 1 1 http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|TOKEN_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013163|nephronophthisis-like nephropathy 1|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/DOID_0111117|nephronophthisis-like nephropathy 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/613159|Nephronophthisis-like nephropathy 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013163|nephronophthisis-like nephropathy 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -leber congenital amaurosis 14 1 http://purl.obolibrary.org/obo/MONDO_0018998|Leber congenital amaurosis|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013231|Leber congenital amaurosis 14|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/DOID_0110188|Leber congenital amaurosis 14|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/613341|Leber congenital amaurosis 14|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/C567636|Leber Congenital Amaurosis 14|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013231|Leber congenital amaurosis 14|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013231|Leber congenital amaurosis 14|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -lamb-shaffer syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017781|12p12.1 microdeletion syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0014778|Lamb-Shaffer syndrome|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://www.orpha.net/ORDO/Orphanet_530983|Lamb-Shaffer syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0014778|Lamb-Shaffer syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -lamb-shaffer syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017782|developmental and speech delay due to SOX5 deficiency|NO_MATCH|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0014778|Lamb-Shaffer syndrome|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://www.orpha.net/ORDO/Orphanet_530983|Lamb-Shaffer syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0014778|Lamb-Shaffer syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -malignant tumor of prostate 1 http://www.ebi.ac.uk/efo/EFO_0001663|prostate carcinoma|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008315|prostate cancer|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/NCIT_C7378|Malignant Prostate Neoplasm|EXACT_MATCH_SYNONYM|NOT_MONDO_HP_EFO elfn1-related condition 1 -pol iii-related leukodystrophy 1 http://www.orpha.net/ORDO/Orphanet_289494|4H leukodystrophy|TOKEN_MATCH_LABEL|EFO_CURRENT -isolated thoracic aortic aneurysm 1 -thrombophilia due to protein c deficiency, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019145|hereditary thrombophilia due to congenital protein C deficiency|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008316|thrombophilia due to protein C deficiency, autosomal dominant|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://identifiers.org/omim/176860|Thrombophilia due to protein C deficiency, autosomal dominant|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0008316|thrombophilia due to protein C deficiency, autosomal dominant|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -retinitis pigmentosa 7, digenic 1 http://purl.obolibrary.org/obo/MONDO_0019200|retinitis pigmentosa|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_1060144|retinitis pigmentosa 7, digenic|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://id.nlm.nih.gov/mesh/C567263|Retinitis Pigmentosa 7, Digenic|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -non-ketotic hyperglycinemia 1 http://purl.obolibrary.org/obo/MONDO_0011612|glycine encephalopathy|EXACT_MATCH_SYNONYM|EFO_CURRENT http://identifiers.org/omim/605899|Non-ketotic hyperglycinemia|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0011612|glycine encephalopathy|EXACT_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/NCIT_C84937|Glycine Encephalopathy|EXACT_MATCH_SYNONYM|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_9268|glycine encephalopathy|EXACT_MATCH_SYNONYM|NOT_MONDO_HP_EFO http://snomed.info/id/237939006|Non-ketotic hyperglycinemia (disorder)|CONTAINED_MATCH_LABEL|NOT_MONDO_HP_EFO http://www.orpha.net/ORDO/Orphanet_407|Glycine encephalopathy|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/D020158|Hyperglycinemia, Nonketotic|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO -usher syndrome type 1f 1 http://purl.obolibrary.org/obo/MONDO_0019501|Usher syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0011186|Usher syndrome type 1F|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://snomed.info/id/514793471000119104|Usher syndrome type 1F|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_0110832|Usher syndrome type 1F|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0011186|Usher syndrome type 1F|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -rett syndrome, congenital variant 1 http://purl.obolibrary.org/obo/MONDO_0010726|Rett syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/NCIT_C176903|Rett Syndrome, Congenital Variant|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0100040|FOXG1 disorder|EXACT_MATCH_SYNONYM|EFO_CURRENT -hyperekplexia 3 1 http://purl.obolibrary.org/obo/MONDO_0021022|hereditary hyperekplexia|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013827|hyperekplexia 3|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/DOID_0060698|hyperekplexia 3|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/614618|Hyperekplexia 3|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013827|hyperekplexia 3|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -nemaline myopathy 2 1 http://purl.obolibrary.org/obo/MONDO_0018958|nemaline myopathy|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0009725|nemaline myopathy 2|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/NCIT_C118784|Nemaline Myopathy 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_0110928|nemaline myopathy 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/256030|Nemaline myopathy 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/C538349|Nemaline Myopathy 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0009725|nemaline myopathy 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -hyperaldosteronism, familial, type iv 1 http://purl.obolibrary.org/obo/MONDO_0016525|familial hyperaldosteronism|TOKEN_MATCH_SYNONYM|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0014875|hyperaldosteronism, familial, type IV|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/MONDO_0014875|hyperaldosteronism, familial, type IV|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -joubert syndrome 8 1 http://purl.obolibrary.org/obo/MONDO_0018772|Joubert syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0012855|Joubert syndrome 8|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/DOID_0111003|Joubert syndrome 8|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://identifiers.org/omim/612291|Joubert syndrome 8|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/C567358|Joubert Syndrome 8|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0012855|Joubert syndrome 8|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -mitochondrial complex i deficiency, nuclear type 1 1 http://purl.obolibrary.org/obo/MONDO_0100133|mitochondrial complex I deficiency|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0100224|mitochondrial complex I deficiency, nuclear type 1|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/MONDO_0100224|mitochondrial complex I deficiency, nuclear type 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0100224|mitochondrial complex I deficiency, nuclear type 1|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -retinitis pigmentosa 80 1 http://purl.obolibrary.org/obo/MONDO_0019200|retinitis pigmentosa|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0054708|retinitis pigmentosa 80|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/DOID_0061111|retinitis pigmentosa 80|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0100509|IFT140-related recessive ciliopathy|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0054708|retinitis pigmentosa 80|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0054708|retinitis pigmentosa 80|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -rod-cone dystrophy 1 http://www.orpha.net/ORDO/Orphanet_1872|Cone rod dystrophy|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0000510|Rod-cone dystrophy|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/MONDO_0019200|retinitis pigmentosa|TOKEN_MATCH_LABEL|EFO_CURRENT http://id.nlm.nih.gov/mesh/D000071700|Cone-Rod Dystrophies|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO -hypokalemic periodic paralysis, type 2 1 http://purl.obolibrary.org/obo/MONDO_0008223|hypokalemic periodic paralysis|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013234|hypokalemic periodic paralysis, type 2|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://id.nlm.nih.gov/mesh/C567635|Hypokalemic Periodic Paralysis, Type 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0013234|hypokalemic periodic paralysis, type 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO -retinitis pigmentosa-deafness syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019501|Usher syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0010775|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://snomed.info/id/57838006|Retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/DOID_0110829|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0019501|Usher syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_886|Usher syndrome|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://id.nlm.nih.gov/mesh/D052245|Usher Syndromes|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0010775|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0010775|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO +intellectual disability, autosomal dominant 6 1 http://purl.obolibrary.org/obo/MONDO_0013509|intellectual disability, autosomal dominant 6|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/MONDO_0013509|intellectual disability, autosomal dominant 6|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO autosomal dominant kcnq1-related disease 1 -isolated nonsyndromic congenital heart disease 1 -intellectual disability, autosomal dominant 5 1 http://purl.obolibrary.org/obo/MONDO_0012960|intellectual disability, autosomal dominant 5|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO http://purl.obolibrary.org/obo/MONDO_0012960|intellectual disability, autosomal dominant 5|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO http://purl.obolibrary.org/obo/MONDO_0012960|intellectual disability, autosomal dominant 5|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO simvastatin response - toxicity 1 diff --git a/tests/pipelines/resources/expected/mappings_no_header_nonmatching.tsv b/tests/pipelines/resources/expected/mappings_no_header_nonmatching.tsv new file mode 100644 index 00000000..7603a463 --- /dev/null +++ b/tests/pipelines/resources/expected/mappings_no_header_nonmatching.tsv @@ -0,0 +1 @@ +heart http://purl.obolibrary.org/obo/UBERON_0000948 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 bafe8c67..ac5db8fa 100644 --- a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv +++ b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv @@ -1,2250 +1,812 @@ -#generated-date=2025-09-05 +#generated-date=2026-01-16 #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_0014505 developmental and epileptic encephalopathy, 27 -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 epilepsy with febrile seizures plus, type 7 http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 -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_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_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 -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 -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 -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 6 http://purl.obolibrary.org/obo/MONDO_0013509 intellectual disability, autosomal dominant 6 -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 -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_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 -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_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_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 -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 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 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 -meckel syndrome, type 1 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-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 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_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_0017842 Senior-Loken syndrome -nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis -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_0018982 Niemann-Pick disease type C -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 -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 -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 primary pulmonary 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 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 -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 2 http://purl.obolibrary.org/obo/MONDO_0013224 rhabdoid tumor predisposition syndrome 2 -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_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 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 -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_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 -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 -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 -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 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 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 -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 -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 6 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome -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 -aicardi goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -aicardi goutieres syndrome 2 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -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 6 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -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 -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 -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 -amyotrophic lateral sclerosis 14, with or without frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -amyotrophic lateral sclerosis 15, with or without frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -amyotrophic lateral sclerosis 17 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -amyotrophic lateral sclerosis 18 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -amyotrophic lateral sclerosis 19 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -amyotrophic lateral sclerosis 20 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -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 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 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 -amyotrophy, hereditary neuralgic http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy -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 -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 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 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 -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 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 -arrhythmogenic right ventricular cardiomyopathy, type 12 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy -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 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, 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 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-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 -atrial septal defect 1 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect -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 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 -atrial septal defect 9 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect -autism http://www.ebi.ac.uk/efo/EFO_0003758 autism -autism 1 http://www.ebi.ac.uk/efo/EFO_0003758 autism -autism 10 http://www.ebi.ac.uk/efo/EFO_0003758 autism -autism 15 http://www.ebi.ac.uk/efo/EFO_0003758 autism -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, 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 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, joint, and kidney disease http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease -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 -autosomal recessive congenital ichthyosis 2 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis -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 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 limb-girdle muscular dystrophy type 2r http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R -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 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 2/6, 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 -bardet-biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bardet-biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bardet-biedl syndrome 6/10, digenic http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bardet-biedl syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bare lymphocyte syndrome 2 http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II -bare lymphocyte syndrome type 1 http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II -bare lymphocyte syndrome type 2, complementation group e http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II -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 -becker muscular dystrophy, atypical http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy -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 -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 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-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 -brittle cornea syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea 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 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 -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 -cardiac arrhythmia, ankyrin b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -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 -cardiomyopathy, dilated, 2b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -cardiomyopathy, dilated, 2c http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma -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, 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 -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 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 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 -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, 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 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 4b2 with early-onset glaucoma http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 -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 -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 2 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus -chondroectodermal dysplasia http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome -choreaacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis -choreoacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis -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 -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 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 -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 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 -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 oxidative phosphorylation deficiency 1 http://www.orpha.net/ORDO/Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -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 -cone dystrophy 5, x-linked http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone monochromatism http://www.orpha.net/ORDO/Orphanet_16 Blue cone monochromatism -cone rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod degeneration http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 10 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 11 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 12 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 13 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 15 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 16 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 18 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy 19 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -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 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 -cone-rod dystrophy x-linked 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -cone-rod dystrophy, aipl1-related http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -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 dyserythropoietic anemia type type 1b 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 muscular dystrophy with integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency -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 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 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 4c http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -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 -corneal dystrophy, fuchs endothelial 1 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy -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 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 -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 7 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease -cranioectodermal dysplasia 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 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 -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 -deafness, autosomal dominant 1 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 10 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 11 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 12 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 13 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 15 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 16 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 22 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 36 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 3a http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 4 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 41 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 44 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 5 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 51 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 56 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 64 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 65 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 66 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 67 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 68 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 69 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 70 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 71 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 72 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal dominant 9 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 101 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 102 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 103 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 104 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 106 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 107 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 108 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 12 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 15 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 18 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 2 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 21 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 22 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 23 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 24 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 25 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 28 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 29 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 3 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 30 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 31 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 32 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 35 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 37 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 39 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 42 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 44 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 48 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 49 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 53 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 59 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 6 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 61 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 63 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 66 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 67 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 68 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 7 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 70 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 74 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 76 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 77 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 79 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 8 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 84 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 86 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 88 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 89 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -deafness, autosomal recessive 9 http://www.ebi.ac.uk/efo/EFO_0001063 deafness -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 -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 -developmental and epileptic encephalopathy, 3 http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy -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 -developmental and epileptic encephalopathy, 60 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 63 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 64 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 67 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome -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, 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 -developmental and epileptic encephalopathy, 73 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 74 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 75 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -developmental and epileptic encephalopathy, 76 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -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, 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 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 -diamond-blackfan anemia 14 with mandibulofacial dysostosis http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 15 with mandibulofacial dysostosis http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 16 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 17 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 18 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 19 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 20 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 3 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 4 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 5 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 6 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -diamond-blackfan anemia 7 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia -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 -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 -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 -dilated cardiomyopathy 1b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -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 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 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 1jj http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -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 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 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 -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 -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 -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 -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 -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 -ehlers-danlos syndrome, arthrochalasia type, 1 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 -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 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 -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 with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular 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 -epilepsy, familial adult myoclonic, 1 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 -epilepsy, familial adult myoclonic, 7 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy -epilepsy, familial focal, with variable foci 1 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci -epilepsy, familial focal, with variable foci 2 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci -epilepsy, familial focal, with variable foci 3 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci -epilepsy, familial focal, with variable foci 4 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci -epilepsy, focal, with speech disorder and with or without mental retardation http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome -epilepsy, idiopathic generalized, susceptibility to http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -epilepsy, idiopathic generalized, susceptibility to, 12 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -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 -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 -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 -exudative vitreoretinopathy 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 -familial adenomatous polyposis http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis -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 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 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 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 hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism -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 -familial hypercholesterolemia 4 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia -familial hypercholesterolemias http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia -familial hypertrophic cardiomyopathy 1 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 10 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 11 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 12 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 13 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 14 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 15 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 16 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 17 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 18 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 19 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 2 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 20 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 22 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 23 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 24 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 3 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 4 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -familial hypertrophic cardiomyopathy 6 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy -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 idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -familial mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever -familial prostate carcinoma http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer -familial thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections -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 -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 -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 -frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia -frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia -fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria -galactosemia http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia -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 -generalized epilepsy with febrile seizures plus 3 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -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 9 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -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 -glanzmann thrombasthenia 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 with or without impaired intellectual development http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay -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 -goldmann-favre syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome -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 3 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome -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 cancer syndrome http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome -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 hyperekplexia http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -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 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 -hermansky-pudlak syndrome 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 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, 7 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis -holoprosencephaly http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly -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 7 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -holoprosencephaly 9 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 -hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia -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, 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 4 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -hyperferritinemia cataract syndrome http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia-cataract syndrome -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 -hypokalemic periodic paralysis 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 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 -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 -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 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 -intractable seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure -isolated ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -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 -joubert syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 12/15, digenic http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 14 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 15 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 16 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -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 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 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 -joubert syndrome 30 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 31 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 32 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -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 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 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/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 -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 -laminin alpha 2-related dystrophy http://www.ebi.ac.uk/efo/EFO_0009138 laminin alpha 2-related dystrophy -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 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 -leber congenital amaurosis 18 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -leber congenital amaurosis 19 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -leber congenital amaurosis 2 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -leber congenital amaurosis 3 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -leber congenital amaurosis 4 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -leber congenital amaurosis 5 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -leber congenital amaurosis 6 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -leber congenital amaurosis 7 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -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 -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 -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 -lobar holoprosencephaly http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency -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 -long qt syndrome 12 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -long qt syndrome 14 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -long qt syndrome 2/3, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -long qt syndrome 2/5 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -long qt syndrome 2/9, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -long qt syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -long qt syndrome 3/6, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -long qt syndrome 4 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -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 -lynch-like syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -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 -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 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 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 -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 -megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus 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 -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, mild http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy -metachromatic leukodystrophy, severe http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy -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 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 -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 -microcephaly 24, primary, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic 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, 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 -mitochondrial complex 1 deficiency, nuclear type 11 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 12 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 13 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 14 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 15 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 16 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 17 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 18 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 19 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 2 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 21 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 22 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 23 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 24 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 25 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 26 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 27 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 28 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 29 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 3 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 30 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 31 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 32 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 33 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 35 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 4 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 6 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 7 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 8 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 1 deficiency, nuclear type 9 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 3 deficiency, nuclear type 10 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 4 deficiency, nuclear type 16 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 4 deficiency, nuclear type 19 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -mitochondrial complex 4 deficiency, nuclear type 21 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -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 iv deficiency http://www.ebi.ac.uk/efo/EFO_0009135 leigh syndrome due to mitochondrial complex iv 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 -mucopolysaccharidosis, type vi, severe http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 -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 3 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 -multiple endocrine neoplasia, type 2b http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 -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 -myasthenic syndrome, congenital, 15 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 17 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 18 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -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, 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 -myasthenic syndrome, congenital, 2a, slow-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 3a, slow-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 3b, fast-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 4a, slow-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 4b, fast-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 7, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myasthenic syndrome, congenital, 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -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 -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, 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, tubular aggregate, 1 http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy -nager syndrome http://www.orpha.net/ORDO/Orphanet_245 Nager 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 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 -nemaline myopathy 7 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy -nemaline myopathy 8 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy -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 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 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 -nephronophthisis 4 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis -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 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 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 -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 -neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 -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 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 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 -niemann-pick disease, type c 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-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 -noonan syndrome http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -noonan syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -noonan syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -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 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 -oligodontia http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -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 -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 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 -osteogenesis imperfecta type 8 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta -osteogenesis imperfecta type 9 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta -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 -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 -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 -parietal foramina 1 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina -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 -parkinson disease 14 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -parkinson disease 15 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -parkinson disease 17 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -parkinson disease 18 http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease -parkinson disease 21 http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease -parkinson disease 22, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -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 -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 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 10a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -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 -peroxisome biogenesis disorder 13a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -peroxisome biogenesis disorder 1a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -peroxisome biogenesis disorder 2a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -peroxisome biogenesis disorder 2b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder -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 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 -peroxisome biogenesis disorder 7a http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder -peroxisome biogenesis disorder 7a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -peroxisome biogenesis disorder 7b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder -peroxisome biogenesis disorder 8a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome -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 -pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-CDG -phosphoglycerate dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form -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 -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 -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/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 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 -premature ovarian failure 13 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 14 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 15 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 16 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 17 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 2a http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 2b http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 3 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 4 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 5 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 6 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -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 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 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 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 -primary pulmonary hypertension 4 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension -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 1a http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect -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 -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 -prostate cancer http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma -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, 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 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 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, 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, 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 -renal carnitine transport defect http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency -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 dysplasia http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -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 -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 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 -retinitis pigmentosa 2 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 20 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 23 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 25 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 26 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 27 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 28 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 3 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 30 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 31 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 33 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 35 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -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 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 -retinitis pigmentosa 42 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 43 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 44 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 45 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 46 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 47 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 48 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 49 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 50 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 51 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 53 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 54 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 55 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 56 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 57 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 58 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 59 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 6 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 60 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 61 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 62 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 64 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 65 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 66 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 67 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -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 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 -retinitis pigmentosa 74 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 75 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -retinitis pigmentosa 76 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -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 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 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 -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 -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 -romano-ward syndrome http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward 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 -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, 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 -selective tooth agenesis http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -semilobar holoprosencephaly http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -senior-loken syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -senior-loken syndrome 3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -senior-loken syndrome 4 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -senior-loken syndrome 5 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -senior-loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -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 -short rib-polydactyly syndrome, verma-naumoff type http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type -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 -short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -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 2 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia -solitary median maxillary central incisor syndrome http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -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 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 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 -spastic paraplegia 4, autosomal dominant http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 -spastic paraplegia 45, autosomal recessive http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 -spastic paraplegia 47, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia -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 -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 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 -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 -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 -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 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 -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, 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 -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 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 -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 type 1d http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -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 -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 -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 -wfs1-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder -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 external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome http://www.ebi.ac.uk/efo/EFO_0001063 deafness -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 -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 +12p12.1 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0017781 +2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 +22q11.2 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0018923 +22q11.2 deletion syndrome http://www.orpha.net/ORDO/Orphanet_567 +2q23.1 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016459 +3-methylcrotonyl-CoA carboxylase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0008862 +3-methylcrotonyl-CoA carboxylase deficiency http://www.orpha.net/ORDO/Orphanet_6 +3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 +3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form http://www.orpha.net/ORDO/Orphanet_79351 +3C syndrome http://www.orpha.net/ORDO/Orphanet_7 +46,XY sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0020712 +4H leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 +6-pyruvoyl-tetrahydropterin synthase deficiency http://www.orpha.net/ORDO/Orphanet_13 +ALG13-CDG http://www.orpha.net/ORDO/Orphanet_324422 +Abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 +Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0001626 +Achondrogenesis http://www.orpha.net/ORDO/Orphanet_932 +Acrocallosal syndrome http://www.orpha.net/ORDO/Orphanet_36 +Acromesomelic dysplasia, Maroteaux type http://www.orpha.net/ORDO/Orphanet_40 +Acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 +Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins http://www.orpha.net/ORDO/Orphanet_217371 +Adams-Oliver syndrome http://purl.obolibrary.org/obo/MONDO_0007034 +Adult-onset foveomacular vitelliform dystrophy http://www.orpha.net/ORDO/Orphanet_99000 +Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia http://www.orpha.net/ORDO/Orphanet_313808 +Agnathia-holoprosencephaly-situs inversus syndrome http://www.orpha.net/ORDO/Orphanet_990 +Aicardi-Goutieres syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009165 +Aicardi-Goutieres syndrome 5 http://purl.obolibrary.org/obo/MONDO_0013059 +Aicardi-Goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 +Aicardi-Goutières syndrome http://www.orpha.net/ORDO/Orphanet_51 +Alagille syndrome http://www.orpha.net/ORDO/Orphanet_52 +Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 +Alopecia-intellectual disability syndrome http://www.orpha.net/ORDO/Orphanet_2850 +Alpha-1-antitrypsin deficiency http://www.orpha.net/ORDO/Orphanet_60 +Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 +Alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 +Alymphoid cystic thymic dysgenesis http://www.orpha.net/ORDO/Orphanet_169095 +Argininemia http://www.orpha.net/ORDO/Orphanet_90 +Arrhythmogenic right ventricular cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 +Arthrochalasia Ehlers-Danlos syndrome http://www.orpha.net/ORDO/Orphanet_1899 +Ataxia-telangiectasia http://www.orpha.net/ORDO/Orphanet_100 +Autoimmune polyendocrinopathy type 1 http://www.orpha.net/ORDO/Orphanet_3453 +Autosomal dominant cerebellar ataxia http://www.orpha.net/ORDO/Orphanet_99 +Autosomal dominant nocturnal frontal lobe epilepsy http://www.orpha.net/ORDO/Orphanet_98784 +Autosomal dominant palmoplantar keratoderma and congenital alopecia http://www.orpha.net/ORDO/Orphanet_1010 +Autosomal dominant spastic paraplegia type 4 http://www.orpha.net/ORDO/Orphanet_100985 +Autosomal recessive ataxia, Beauce type http://www.orpha.net/ORDO/Orphanet_88644 +Autosomal recessive hereditary sensory and autonomic neuropathy http://www.orpha.net/ORDO/Orphanet_140477 +Autosomal recessive hypohidrotic ectodermal dysplasia http://www.orpha.net/ORDO/Orphanet_248 +Autosomal recessive limb-girdle muscular dystrophy type 2R http://www.orpha.net/ORDO/Orphanet_363543 +Autosomal recessive spastic ataxia http://www.orpha.net/ORDO/Orphanet_316240 +Autosomal recessive spastic ataxia of Charlevoix-Saguenay http://www.orpha.net/ORDO/Orphanet_98 +Autosomal recessive spastic paraplegia type 28 http://www.orpha.net/ORDO/Orphanet_101008 +Autosomal recessive spastic paraplegia type 48 http://www.orpha.net/ORDO/Orphanet_306511 +Autosomal recessive spastic paraplegia type 53 http://www.orpha.net/ORDO/Orphanet_319199 +Autosomal spastic paraplegia type 30 http://www.orpha.net/ORDO/Orphanet_101010 +BAP1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 +BAP1-related tumor predisposition syndrome http://www.orpha.net/ORDO/Orphanet_289539 +Bacterial susceptibility due to TLR signaling pathway deficiency http://www.orpha.net/ORDO/Orphanet_183713 +Baller-Gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 +Bardet-Biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 +Bardet-Biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 +Bardet-Biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 +Bardet-Biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014432 +Bartsocas-Papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 +Bartsocas-Papas syndrome http://www.orpha.net/ORDO/Orphanet_1234 +Bartsocas-Papas syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009901 +Becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 +Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 +Benign familial neonatal-infantile seizures http://www.orpha.net/ORDO/Orphanet_140927 +Björnstad syndrome http://www.orpha.net/ORDO/Orphanet_123 +Blackfan-Diamond anemia http://www.orpha.net/ORDO/Orphanet_124 +Blepharophimosis-ptosis-epicanthus inversus syndrome http://www.orpha.net/ORDO/Orphanet_126 +Bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 +Blue cone monochromatism http://www.orpha.net/ORDO/Orphanet_16 +Borjeson-Forssman-Lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 +Brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 +Brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 +Brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0013015 +CHARGE syndrome http://purl.obolibrary.org/obo/MONDO_0008965 +COG1-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 +COG7-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 +Capillary malformation-arteriovenous malformation http://www.orpha.net/ORDO/Orphanet_137667 +Carnitine palmitoyl transferase 1A deficiency http://www.orpha.net/ORDO/Orphanet_156 +Carvajal syndrome http://www.orpha.net/ORDO/Orphanet_65282 +Centronuclear myopathy http://www.orpha.net/ORDO/Orphanet_595 +Cerebroretinal vasculopathy http://www.orpha.net/ORDO/Orphanet_3421 +Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 +Charcot-Marie-Tooth disease axonal type 2O http://purl.obolibrary.org/obo/MONDO_0013644 +Charcot-Marie-Tooth disease axonal type 2S http://purl.obolibrary.org/obo/MONDO_0014511 +Charcot-Marie-Tooth disease dominant intermediate B http://purl.obolibrary.org/obo/MONDO_0011674 +Charcot-Marie-Tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 +Charcot-Marie-Tooth disease type 2E http://purl.obolibrary.org/obo/MONDO_0011894 +Charcot-Marie-Tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 +Charcot-Marie-Tooth disease type 4B2 http://purl.obolibrary.org/obo/MONDO_0011475 +Charcot-Marie-Tooth disease type 4H http://purl.obolibrary.org/obo/MONDO_0012250 +Childhood-onset epilepsy syndrome http://www.orpha.net/ORDO/Orphanet_98259 +Choreoacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 +Chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 +Chédiak-Higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 +Coffin-Siris syndrome http://purl.obolibrary.org/obo/MONDO_0015452 +Coffin-Siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007617 +Cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 +Combined immunodeficiency due to CRAC channel dysfunction http://www.orpha.net/ORDO/Orphanet_169090 +Combined immunodeficiency due to STIM1 deficiency http://www.orpha.net/ORDO/Orphanet_317430 +Combined malonic and methylmalonic acidemia http://www.orpha.net/ORDO/Orphanet_289504 +Compton-North congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 +Cone rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 +Congenital alpha2-antiplasmin deficiency http://www.orpha.net/ORDO/Orphanet_79 +Congenital bilateral absence of vas deferens http://www.orpha.net/ORDO/Orphanet_48 +Congenital disorder of glycosylation http://www.orpha.net/ORDO/Orphanet_137 +Congenital dyserythropoietic anemia type I http://www.orpha.net/ORDO/Orphanet_98869 +Congenital factor XII deficiency http://www.orpha.net/ORDO/Orphanet_330 +Congenital factor XIII deficiency http://www.orpha.net/ORDO/Orphanet_331 +Congenital isolated hyperinsulinism http://www.orpha.net/ORDO/Orphanet_657 +Congenital muscular dystrophy with integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 +Congenital myasthenic syndrome http://www.orpha.net/ORDO/Orphanet_590 +Cornelia de Lange syndrome http://purl.obolibrary.org/obo/MONDO_0016033 +Costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 +Cowden disease http://purl.obolibrary.org/obo/MONDO_0016063 +Cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 +Crohn's disease http://www.ebi.ac.uk/efo/EFO_0000384 +D-glyceric aciduria http://www.orpha.net/ORDO/Orphanet_941 +DICER1-related tumor predisposition http://purl.obolibrary.org/obo/MONDO_0100216 +DOCK2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 +DYRK1A-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 +Dentatorubral pallidoluysian atrophy http://www.orpha.net/ORDO/Orphanet_101 +Desminopathy http://www.orpha.net/ORDO/Orphanet_98909 +Diamond-Blackfan anemia http://www.orpha.net/ORDO/Orphanet_124 +Diffuse palmoplantar keratoderma, Bothnian type http://www.orpha.net/ORDO/Orphanet_2337 +Distal renal tubular acidosis http://www.orpha.net/ORDO/Orphanet_18 +Dravet syndrome http://purl.obolibrary.org/obo/MONDO_0100135 +Dravet syndrome http://www.orpha.net/ORDO/Orphanet_33069 +Duane retraction syndrome http://www.orpha.net/ORDO/Orphanet_233 +Duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 +Dystonia http://purl.obolibrary.org/obo/HP_0001332 +EEM syndrome http://purl.obolibrary.org/obo/MONDO_0009155 +EGFR-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 +Early infantile epileptic encephalopathy http://www.orpha.net/ORDO/Orphanet_1934 +Early-onset non-syndromic cataract http://www.orpha.net/ORDO/Orphanet_91492 +Early-onset nuclear cataract http://www.orpha.net/ORDO/Orphanet_98991 +Early-onset partial cataract http://www.orpha.net/ORDO/Orphanet_98992 +Early-onset posterior polar cataract http://www.orpha.net/ORDO/Orphanet_98993 +Early-onset sutural cataract http://www.orpha.net/ORDO/Orphanet_98985 +Early-onset zonular cataract http://www.orpha.net/ORDO/Orphanet_98995 +Ehlers-Danlos syndrome, vascular type http://purl.obolibrary.org/obo/MONDO_0017314 +Ellis Van Creveld syndrome http://www.orpha.net/ORDO/Orphanet_289 +Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 +Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0016830 +Emery-Dreifuss muscular dystrophy http://www.orpha.net/ORDO/Orphanet_261 +Emery-Dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 +Encephalopathy due to sulfite oxidase deficiency http://www.orpha.net/ORDO/Orphanet_833 +Epidermolysis bullosa simplex http://www.orpha.net/ORDO/Orphanet_304 +Epidermolysis bullosa simplex with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 +Epidermolysis bullosa simplex with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 +Epidermolysis bullosa simplex, Ogna type http://www.orpha.net/ORDO/Orphanet_79401 +Epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 +Erythroderma desquamativum http://www.orpha.net/ORDO/Orphanet_314 +FOXG1 disorder http://purl.obolibrary.org/obo/MONDO_0100040 +Familial abdominal aortic aneurysm http://www.orpha.net/ORDO/Orphanet_86 +Familial adenomatous polyposis http://www.orpha.net/ORDO/Orphanet_733 +Familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 +Familial exudative vitreoretinopathy http://www.orpha.net/ORDO/Orphanet_891 +Familial hemophagocytic lymphohistiocytosis http://www.orpha.net/ORDO/Orphanet_540 +Familial hyperaldosteronism type I http://www.orpha.net/ORDO/Orphanet_403 +Familial isolated arrhythmogenic right ventricular dysplasia http://www.orpha.net/ORDO/Orphanet_217656 +Familial paroxysmal ataxia http://www.orpha.net/ORDO/Orphanet_97 +Familial progressive cardiac conduction defect http://www.orpha.net/ORDO/Orphanet_871 +Familial prostate cancer http://www.orpha.net/ORDO/Orphanet_1331 +Familial thyroid dyshormonogenesis http://www.orpha.net/ORDO/Orphanet_95716 +Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 +Fanconi anemia complementation group C http://purl.obolibrary.org/obo/MONDO_0009213 +Fanconi anemia complementation group J http://purl.obolibrary.org/obo/MONDO_0012187 +Farber disease http://www.orpha.net/ORDO/Orphanet_333 +Farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 +Fetal akinesia deformation sequence http://www.orpha.net/ORDO/Orphanet_994 +Friedreich ataxia http://www.orpha.net/ORDO/Orphanet_95 +Fuchs endothelial corneal dystrophy http://www.orpha.net/ORDO/Orphanet_98974 +GNE myopathy http://purl.obolibrary.org/obo/MONDO_0011603 +GNE myopathy http://www.orpha.net/ORDO/Orphanet_602 +Generalized epilepsy with febrile seizures-plus http://www.orpha.net/ORDO/Orphanet_36387 +Generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 +Genetic steroid-resistant nephrotic syndrome http://www.orpha.net/ORDO/Orphanet_656 +Glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 +Global developmental delay http://purl.obolibrary.org/obo/HP_0001263 +Glutaric aciduria http://purl.obolibrary.org/obo/HP_0003150 +Glutathione synthetase deficiency http://www.orpha.net/ORDO/Orphanet_32 +Glycogen storage disease due to acid maltase deficiency http://www.orpha.net/ORDO/Orphanet_365 +Goldmann-Favre syndrome http://purl.obolibrary.org/obo/MONDO_0100289 +Growth delay due to insulin-like growth factor type 1 deficiency http://www.orpha.net/ORDO/Orphanet_73272 +Gyrate atrophy of choroid and retina http://www.orpha.net/ORDO/Orphanet_414 +HERNS syndrome http://www.orpha.net/ORDO/Orphanet_63261 +Hemolytic anemia due to glucophosphate isomerase deficiency http://www.orpha.net/ORDO/Orphanet_712 +Hennekam syndrome http://purl.obolibrary.org/obo/MONDO_0016256 +Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://www.orpha.net/ORDO/Orphanet_137681 +Hereditary breast and ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 +Hereditary breast and/or ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 +Hereditary breast cancer http://www.orpha.net/ORDO/Orphanet_227535 +Hereditary diffuse gastric cancer http://www.orpha.net/ORDO/Orphanet_26106 +Hereditary hemorrhagic telangiectasia http://www.orpha.net/ORDO/Orphanet_774 +Hereditary hyperferritinemia-cataract syndrome http://www.orpha.net/ORDO/Orphanet_163 +Hereditary late-onset Parkinson disease http://www.orpha.net/ORDO/Orphanet_411602 +Hereditary myopathy with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 +Hereditary orotic aciduria http://www.orpha.net/ORDO/Orphanet_30 +Hereditary progressive cardiac conduction defect http://www.orpha.net/ORDO/Orphanet_871 +Hereditary sensory and autonomic neuropathy type 2 http://www.orpha.net/ORDO/Orphanet_970 +Hereditary sensory and autonomic neuropathy type 6 http://www.orpha.net/ORDO/Orphanet_314381 +Hereditary spastic paraplegia http://www.orpha.net/ORDO/Orphanet_685 +Hereditary thrombophilia due to congenital antithrombin deficiency http://www.orpha.net/ORDO/Orphanet_82 +Hereditary vascular retinopathy http://www.orpha.net/ORDO/Orphanet_71291 +Hermansky-Pudlak syndrome http://purl.obolibrary.org/obo/MONDO_0019312 +Hermansky-Pudlak syndrome without pulmonary fibrosis http://purl.obolibrary.org/obo/MONDO_0016502 +Herpes simplex virus encephalitis http://www.orpha.net/ORDO/Orphanet_1930 +Holoprosencephaly http://www.orpha.net/ORDO/Orphanet_2162 +Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency http://www.orpha.net/ORDO/Orphanet_401948 +Hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 +Hyperlipoproteinemia type 1 http://www.orpha.net/ORDO/Orphanet_411 +Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 +Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism http://www.orpha.net/ORDO/Orphanet_289494 +Immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 +Immunodeficiency by defective expression of MHC class II http://www.orpha.net/ORDO/Orphanet_572 +Infantile spasms syndrome http://www.orpha.net/ORDO/Orphanet_3451 +Inherited arrhythmogenic cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 +Inherited cancer-predisposing syndrome http://www.orpha.net/ORDO/Orphanet_140162 +Inherited retinal disorder http://www.orpha.net/ORDO/Orphanet_71862 +Intellectual disability http://purl.obolibrary.org/obo/HP_0001249 +Isolated cytochrome C oxidase deficiency http://www.orpha.net/ORDO/Orphanet_254905 +Isolated ectopia lentis http://www.orpha.net/ORDO/Orphanet_1885 +Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0018770 +Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 +Joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0011963 +Joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0014770 +Joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 +Joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0012855 +Kallmann syndrome http://www.orpha.net/ORDO/Orphanet_478 +Kleefstra syndrome http://purl.obolibrary.org/obo/MONDO_0012455 +Kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 +Koolen-de Vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 +Krabbe disease http://purl.obolibrary.org/obo/MONDO_0009499 +LAMA2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 +Lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 +Lamb-Shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0014778 +Landau-Kleffner syndrome http://www.ebi.ac.uk/efo/EFO_1001010 +Large for gestational age http://purl.obolibrary.org/obo/HP_0001520 +Larsen syndrome http://purl.obolibrary.org/obo/MONDO_0007875 +Larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 +Late-onset distal myopathy, Markesbery-Griggs type http://www.orpha.net/ORDO/Orphanet_98912 +Leber congenital amaurosis http://purl.obolibrary.org/obo/MONDO_0018998 +Leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0013231 +Left ventricular noncompaction http://www.orpha.net/ORDO/Orphanet_54260 +Lennox-Gastaut syndrome http://purl.obolibrary.org/obo/MONDO_0016532 +Lennox-Gastaut syndrome http://www.orpha.net/ORDO/Orphanet_2382 +Limb-girdle muscular dystrophy http://www.orpha.net/ORDO/Orphanet_263 +Lissencephaly http://www.orpha.net/ORDO/Orphanet_48471 +Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_5 +Luscan-Lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 +Lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 +Lynch syndrome http://www.orpha.net/ORDO/Orphanet_144 +MEGF10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 +MHC class I deficiency http://purl.obolibrary.org/obo/MONDO_0011476 +MYH7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 +Mandibuloacral dysplasia http://www.orpha.net/ORDO/Orphanet_2457 +Marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 +Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0018921 +Meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009571 +Meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0011296 +Megalencephalic leukoencephalopathy with subcortical cysts http://www.orpha.net/ORDO/Orphanet_2478 +Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome http://www.orpha.net/ORDO/Orphanet_83473 +Melnick-Needles syndrome http://purl.obolibrary.org/obo/MONDO_0010650 +Menkes disease http://purl.obolibrary.org/obo/MONDO_0010651 +Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency http://www.orpha.net/ORDO/Orphanet_308425 +Methylmalonic acidemia with homocystinuria http://www.orpha.net/ORDO/Orphanet_26 +Methylmalonic acidemia with homocystinuria, type cblC http://www.orpha.net/ORDO/Orphanet_79282 +Microcephalic osteodysplastic primordial dwarfism type II http://www.orpha.net/ORDO/Orphanet_2637 +Mucopolysaccharidosis http://www.orpha.net/ORDO/Orphanet_79213 +Mucopolysaccharidosis type 7 http://www.orpha.net/ORDO/Orphanet_584 +Multiple congenital anomalies-hypotonia-seizures syndrome type 2 http://www.orpha.net/ORDO/Orphanet_300496 +Myopathy http://purl.obolibrary.org/obo/HP_0003198 +NLRP12-associated hereditary periodic fever syndrome http://www.orpha.net/ORDO/Orphanet_247868 +Nager syndrome http://www.orpha.net/ORDO/Orphanet_245 +Nance-Horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 +Nemaline myopathy http://www.orpha.net/ORDO/Orphanet_607 +Nephronophthisis http://purl.obolibrary.org/obo/HP_0000090 +Netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 +Neu-Laxova syndrome http://purl.obolibrary.org/obo/MONDO_0000179 +Neu-Laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 +Neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 +Neuronal ceroid lipofuscinosis http://www.orpha.net/ORDO/Orphanet_216 +Neutral lipid storage myopathy http://www.orpha.net/ORDO/Orphanet_98908 +Niemann-Pick disease type A http://purl.obolibrary.org/obo/MONDO_0009756 +Niemann-Pick disease type C http://purl.obolibrary.org/obo/MONDO_0018982 +Niemann-Pick disease, type C1 http://purl.obolibrary.org/obo/MONDO_0009757 +Nijmegen breakage syndrome http://purl.obolibrary.org/obo/MONDO_0009623 +Non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 +Non-syndromic male infertility due to sperm motility disorder http://www.orpha.net/ORDO/Orphanet_276234 +Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0018997 +Noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0013186 +Norman-Roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 +OBSOLETE: Autosomal recessive hyper-IgE syndrome http://www.orpha.net/ORDO/Orphanet_169446 +OBSOLETE: Microphthalmia-cataract syndrome http://www.orpha.net/ORDO/Orphanet_2543 +OBSOLETE: Pitt-Hopkins-like syndrome http://www.orpha.net/ORDO/Orphanet_221150 +OBSOLETE: Preaxial polydactyly of fingers http://www.orpha.net/ORDO/Orphanet_294939 +Obesity due to congenital leptin deficiency http://www.orpha.net/ORDO/Orphanet_66628 +Oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 +Omodysplasia http://www.orpha.net/ORDO/Orphanet_2733 +Opitz G/BBB syndrome http://purl.obolibrary.org/obo/MONDO_0017138 +Osteogenesis imperfecta http://www.orpha.net/ORDO/Orphanet_666 +PGM1-CDG http://purl.obolibrary.org/obo/MONDO_0013968 +PGM1-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0013968 +PHARC syndrome http://purl.obolibrary.org/obo/MONDO_0012984 +PHGDH deficiency http://purl.obolibrary.org/obo/MONDO_0011152 +PTEN hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 +Parathyroid Gland Carcinoma http://www.ebi.ac.uk/efo/EFO_1000456 +Parkinson disease http://purl.obolibrary.org/obo/MONDO_0005180 +Paroxysmal non-kinesigenic dyskinesia http://www.orpha.net/ORDO/Orphanet_98810 +Periventricular nodular heterotopia http://www.orpha.net/ORDO/Orphanet_98892 +Peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 +Perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 +Peutz-Jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 +Pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 +Pitt-Hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 +Plectin-related limb-girdle muscular dystrophy R17 http://www.orpha.net/ORDO/Orphanet_254361 +Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome http://www.orpha.net/ORDO/Orphanet_171848 +Primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 +Primary familial polycythemia http://www.orpha.net/ORDO/Orphanet_90042 +Primary immunodeficiency due to a defect in adaptive immunity http://www.orpha.net/ORDO/Orphanet_179006 +Progressive myoclonic epilepsy type 1 http://www.orpha.net/ORDO/Orphanet_308 +Prolonged QT interval http://purl.obolibrary.org/obo/HP_0001657 +Propionic acidemia http://www.orpha.net/ORDO/Orphanet_35 +Pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 +Rabson-Mendenhall syndrome http://purl.obolibrary.org/obo/MONDO_0009874 +Rare disease with thoracic aortic aneurysm and aortic dissection http://www.orpha.net/ORDO/Orphanet_285014 +Rare familial disorder with hypertrophic cardiomyopathy http://www.orpha.net/ORDO/Orphanet_99739 +Retinal dystrophy http://purl.obolibrary.org/obo/HP_0000556 +Retinitis pigmentosa http://www.orpha.net/ORDO/Orphanet_791 +Rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 +Rod-cone dystrophy http://purl.obolibrary.org/obo/HP_0000510 +Romano-Ward syndrome http://www.orpha.net/ORDO/Orphanet_101016 +Rubinstein-Taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 +Saethre-Chotzen syndrome http://www.orpha.net/ORDO/Orphanet_794 +Saldino-Mainzer syndrome http://www.orpha.net/ORDO/Orphanet_140969 +Schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 +Schimke immuno-osseous dysplasia http://www.orpha.net/ORDO/Orphanet_1830 +Schnyder corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 +Schwartz-Jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 +Seizure http://purl.obolibrary.org/obo/HP_0001250 +Senior-Loken syndrome http://purl.obolibrary.org/obo/MONDO_0017842 +Septo-optic dysplasia spectrum http://www.orpha.net/ORDO/Orphanet_3157 +Severe combined immunodeficiency due to DNA-PKcs deficiency http://www.orpha.net/ORDO/Orphanet_317425 +Severe hereditary thrombophilia due to congenital protein C deficiency http://www.orpha.net/ORDO/Orphanet_745 +Short rib-polydactyly syndrome, Majewski type http://www.orpha.net/ORDO/Orphanet_93269 +Short rib-polydactyly syndrome, Saldino-Noonan type http://www.orpha.net/ORDO/Orphanet_93270 +Short rib-polydactyly syndrome, Verma-Naumoff type http://www.orpha.net/ORDO/Orphanet_93271 +Short stature http://purl.obolibrary.org/obo/HP_0004322 +Singleton-Merten dysplasia http://purl.obolibrary.org/obo/MONDO_0008429 +Singleton-Merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 +Sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 +Spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 +Spinal muscular atrophy with respiratory distress type 1 http://www.orpha.net/ORDO/Orphanet_98920 +Spinocerebellar ataxia with axonal neuropathy type 1 http://www.orpha.net/ORDO/Orphanet_94124 +Stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 +Stargardt disease http://www.orpha.net/ORDO/Orphanet_827 +Steinert myotonic dystrophy http://www.orpha.net/ORDO/Orphanet_273 +Stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 +Susceptibility to infection due to TYK2 deficiency http://www.orpha.net/ORDO/Orphanet_331226 +Synaptic congenital myasthenic syndromes http://www.orpha.net/ORDO/Orphanet_98915 +Systemic primary carnitine deficiency http://www.orpha.net/ORDO/Orphanet_158 +T-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 +TNP03-related limb-girdle muscular dystrophy D2 http://www.orpha.net/ORDO/Orphanet_55595 +Teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 +Tip-toe gait http://purl.obolibrary.org/obo/HP_0030051 +Total early-onset cataract http://www.orpha.net/ORDO/Orphanet_98994 +Transcobalamin deficiency http://www.orpha.net/ORDO/Orphanet_859 +Treacher Collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009558 +Treacher-Collins syndrome http://purl.obolibrary.org/obo/MONDO_0002457 +Treacher-Collins syndrome http://www.orpha.net/ORDO/Orphanet_861 +Troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 +Usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 +Usher syndrome http://www.orpha.net/ORDO/Orphanet_886 +Usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 +Usher syndrome type 1F http://purl.obolibrary.org/obo/MONDO_0011186 +Usher syndrome type 2A http://purl.obolibrary.org/obo/MONDO_0010169 +Uterine Carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 +Visual impairment http://purl.obolibrary.org/obo/HP_0000505 +Wagner disease http://purl.obolibrary.org/obo/MONDO_0007740 +Weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 +Weill-Marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 +Weill-Marchesani syndrome http://www.orpha.net/ORDO/Orphanet_3449 +West syndrome http://www.orpha.net/ORDO/Orphanet_3451 +Wolcott-Rallison syndrome http://purl.obolibrary.org/obo/MONDO_0009192 +X-linked agammaglobulinemia http://www.orpha.net/ORDO/Orphanet_47 +X-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 +X-linked dominant hypophosphatemic rickets http://purl.obolibrary.org/obo/MONDO_0010619 +X-linked hypophosphatemia http://www.orpha.net/ORDO/Orphanet_89936 +X-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 +X-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 +Zellweger syndrome http://www.orpha.net/ORDO/Orphanet_912 +aceruloplasminemia http://purl.obolibrary.org/obo/MONDO_0011426 +achromatopsia http://purl.obolibrary.org/obo/MONDO_0018852 +achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0009003 +acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 +acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 +acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 +adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 +adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 +amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/MONDO_0004976 +amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 +anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 +anemia, nonspherocytic hemolytic, due to G6PD deficiency http://purl.obolibrary.org/obo/MONDO_0010480 +ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0012730 +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 +aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0013902 +apolipoprotein A-I deficiency http://purl.obolibrary.org/obo/MONDO_0100189 +aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 +arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 +arrhythmogenic cardiomyopathy with wooly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 +arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 +arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 +arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 +aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 +asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 +ataxia telangiectasia http://purl.obolibrary.org/obo/MONDO_0008840 +ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 +atrial heart septal defect http://www.ebi.ac.uk/efo/EFO_1000825 +atrial septal defect 5 http://purl.obolibrary.org/obo/MONDO_0013011 +attenuated familial adenomatous polyposis http://purl.obolibrary.org/obo/MONDO_0016362 +atypical juvenile parkinsonism http://purl.obolibrary.org/obo/MONDO_0018321 +autism http://www.ebi.ac.uk/efo/EFO_0003758 +autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 +autism, susceptibility to, X-linked 3 http://purl.obolibrary.org/obo/MONDO_0010342 +autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 +autoimmune polyendocrine syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009411 +autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 +autosomal dominant Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0020336 +autosomal dominant cutis laxa http://purl.obolibrary.org/obo/MONDO_0019571 +autosomal dominant dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0009142 +autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 +autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 +autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 +autosomal dominant limb-girdle muscular dystrophy type 1F http://purl.obolibrary.org/obo/MONDO_0012034 +autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 +autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 +autosomal dominant nonsyndromic hearing loss http://purl.obolibrary.org/obo/MONDO_0019587 +autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 +autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 +autosomal erythropoietic protoporphyria http://purl.obolibrary.org/obo/MONDO_0019263 +autosomal recessive Robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 +autosomal recessive ataxia, Beauce type http://purl.obolibrary.org/obo/MONDO_0012549 +autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0017265 +autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 +autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 +autosomal recessive limb-girdle muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0015152 +autosomal recessive limb-girdle muscular dystrophy type 2B http://purl.obolibrary.org/obo/MONDO_0009676 +autosomal recessive limb-girdle muscular dystrophy type 2J http://purl.obolibrary.org/obo/MONDO_0012127 +autosomal recessive limb-girdle muscular dystrophy type 2Q http://purl.obolibrary.org/obo/MONDO_0013390 +autosomal recessive limb-girdle muscular dystrophy type 2Y http://purl.obolibrary.org/obo/MONDO_0014900 +autosomal recessive non-syndromic intellectual disability http://purl.obolibrary.org/obo/MONDO_0019502 +autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 +autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 +benign adult familial myoclonic epilepsy http://purl.obolibrary.org/obo/MONDO_0019448 +biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 +breast cancer http://purl.obolibrary.org/obo/MONDO_0007254 +breast carcinoma http://www.ebi.ac.uk/efo/EFO_0000305 +breast ductal adenocarcinoma http://www.ebi.ac.uk/efo/EFO_0006318 +breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 +breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 +breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 +breast-ovarian cancer, familial, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013669 +brittle cornea syndrome http://purl.obolibrary.org/obo/MONDO_0009242 +capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 +carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 +cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 +cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0012900 +carnitine palmitoyl transferase 1A deficiency http://purl.obolibrary.org/obo/MONDO_0009705 +cartilage-hair hypoplasia http://purl.obolibrary.org/obo/MONDO_0009595 +cataract http://purl.obolibrary.org/obo/MONDO_0005129 +catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 +chilblain lupus http://purl.obolibrary.org/obo/MONDO_0019557 +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0012500 +chitotriosidase deficiency http://www.ebi.ac.uk/efo/EFO_0022489 +chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 +classic familial adenomatous polyposis http://purl.obolibrary.org/obo/MONDO_0021055 +classic galactosemia http://purl.obolibrary.org/obo/MONDO_0009258 +collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 +colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0012953 +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0014038 +combined immunodeficiency due to STIM1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 +combined immunodeficiency due to ZAP70 deficiency http://purl.obolibrary.org/obo/MONDO_0010023 +combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 +congenital bilateral aplasia of vas deferens from CFTR mutation http://purl.obolibrary.org/obo/MONDO_0010178 +congenital dyserythropoietic anemia type 1 http://purl.obolibrary.org/obo/MONDO_0020337 +congenital heart disease http://www.ebi.ac.uk/efo/EFO_0005207 +congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 +congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 +congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 +congenital myopathy 2a, typical, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0008070 +congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 +corneal dystrophy, Fuchs endothelial, 3 http://purl.obolibrary.org/obo/MONDO_0013203 +cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 +cranioectodermal dysplasia http://purl.obolibrary.org/obo/MONDO_0009032 +craniometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015465 +cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 +cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 +deafness http://www.ebi.ac.uk/efo/EFO_0001063 +developmental and epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0100062 +developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 +developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0013388 +developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0013801 +developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0014917 +developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 +developmental and speech delay due to SOX5 deficiency http://purl.obolibrary.org/obo/MONDO_0017782 +dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 +dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 +dilated cardiomyopathy 1DD http://purl.obolibrary.org/obo/MONDO_0013168 +dilated cardiomyopathy 1G http://purl.obolibrary.org/obo/MONDO_0011400 +dilated cardiomyopathy 1J http://purl.obolibrary.org/obo/MONDO_0011541 +dilated cardiomyopathy 1KK http://purl.obolibrary.org/obo/MONDO_0014100 +dilated cardiomyopathy 1W http://purl.obolibrary.org/obo/MONDO_0012667 +dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 +dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 +dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 +early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 +early-infantile DEE http://purl.obolibrary.org/obo/MONDO_0800491 +early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 +early-onset non-syndromic cataract http://purl.obolibrary.org/obo/MONDO_0011060 +endometrial neoplasm http://www.ebi.ac.uk/efo/EFO_0004230 +enhanced S-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 +epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 +epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 +epidermolysis bullosa simplex 5B, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 +epidermolysis bullosa simplex 5C, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 +epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0014661 +epilepsy, hearing loss, and intellectual disability syndrome http://www.ebi.ac.uk/efo/EFO_0009647 +episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 +episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0012353 +esophageal carcinoma http://www.ebi.ac.uk/efo/EFO_0002916 +exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 +factor V deficiency http://purl.obolibrary.org/obo/MONDO_0020586 +familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 +familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 +familial amyotrophic lateral sclerosis http://www.ebi.ac.uk/efo/EFO_0001356 +familial bicuspid aortic valve http://purl.obolibrary.org/obo/MONDO_0007194 +familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 +familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 +familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016525 +familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 +familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 +familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 +familial long QT syndrome http://purl.obolibrary.org/obo/MONDO_0019171 +familial or sporadic hemiplegic migraine http://purl.obolibrary.org/obo/MONDO_0018925 +familial rhabdoid tumor http://purl.obolibrary.org/obo/MONDO_0016473 +familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 +familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 +familial thyroid dyshormonogenesis http://purl.obolibrary.org/obo/MONDO_0010132 +fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 +fg syndrome http://www.ebi.ac.uk/efo/EFO_0009297 +fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 +fragile X syndrome http://purl.obolibrary.org/obo/MONDO_0010383 +frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 +frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 +fumaric aciduria http://purl.obolibrary.org/obo/MONDO_0011730 +fundus albipunctatus http://purl.obolibrary.org/obo/MONDO_0007639 +generalised epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 +generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 +genetic developmental and epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0100062 +genetic disorder http://www.ebi.ac.uk/efo/EFO_0000508 +gestational diabetes http://www.ebi.ac.uk/efo/EFO_0004593 +glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 +glutaryl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009281 +glycine encephalopathy http://purl.obolibrary.org/obo/MONDO_0011612 +glycogen storage disease II http://purl.obolibrary.org/obo/MONDO_0009290 +glycogen storage disease III http://purl.obolibrary.org/obo/MONDO_0009291 +glycogen storage disease V http://purl.obolibrary.org/obo/MONDO_0009293 +growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 +head and neck squamous cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000181 +hearing loss, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0019588 +hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 +hereditary breast carcinoma http://purl.obolibrary.org/obo/MONDO_0016419 +hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 +hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 +hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 +hereditary hyperekplexia http://purl.obolibrary.org/obo/MONDO_0021022 +hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0015356 +hereditary nonpolyposis colorectal carcinoma http://www.ebi.ac.uk/efo/EFO_0009911 +hereditary sensory and autonomic neuropathy http://purl.obolibrary.org/obo/MONDO_0015364 +hereditary sensory and autonomic neuropathy type 2 http://purl.obolibrary.org/obo/MONDO_0019941 +hereditary sensory and autonomic neuropathy type 4 http://purl.obolibrary.org/obo/MONDO_0009746 +hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 +hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 +hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 +hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 +hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 +hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 +hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 +hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 +hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 +hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 +hereditary thrombophilia due to congenital protein C deficiency http://purl.obolibrary.org/obo/MONDO_0019145 +herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 +herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 +heterotopia, periventricular, X-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 +holoprosencephaly http://purl.obolibrary.org/obo/MONDO_0016296 +holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 +hyperaldosteronism, familial, type IV http://purl.obolibrary.org/obo/MONDO_0014875 +hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency http://purl.obolibrary.org/obo/MONDO_0014332 +hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 +hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 +hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0013827 +hyperimmunoglobulinemia D with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 +hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 +hyperphosphatasia-intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0016596 +hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 +hypertrophic cardiomyopathy 1 http://purl.obolibrary.org/obo/MONDO_0008647 +hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 +hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 +hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 +hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 +hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 +hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 +hypokalemic periodic paralysis http://purl.obolibrary.org/obo/MONDO_0008223 +hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 +hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0013234 +idiopathic pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0001999 +idiopathic pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0017147 +idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 +immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 +immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 +immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 +immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 +immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0021094 +infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 +infantile spasms http://purl.obolibrary.org/obo/MONDO_0018097 +infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 +inflammatory bowel disease 1 http://purl.obolibrary.org/obo/MONDO_0009960 +intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 +intellectual disability http://www.ebi.ac.uk/efo/EFO_0003847 +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0012960 +intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 +interstitial lung disease http://www.ebi.ac.uk/efo/EFO_0004244 +intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 +isolated cerebellar hypoplasia/agenesis http://purl.obolibrary.org/obo/MONDO_0008939 +isolated ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 +juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 +lamellar ichthyosis http://purl.obolibrary.org/obo/MONDO_0017778 +laminin alpha 2-related dystrophy http://www.ebi.ac.uk/efo/EFO_0009138 +late-onset Parkinson disease http://purl.obolibrary.org/obo/MONDO_0008199 +left ventricular noncompaction http://purl.obolibrary.org/obo/MONDO_0018901 +leigh syndrome due to mitochondrial complex iv deficiency http://www.ebi.ac.uk/efo/EFO_0009135 +lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 +limb-girdle muscular dystrophy http://www.ebi.ac.uk/efo/EFO_0000310 +long QT syndrome 1 http://purl.obolibrary.org/obo/MONDO_0100316 +long chain 3-hydroxyacyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 +macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 +malignant hyperthermia, susceptibility to, 1 http://www.ebi.ac.uk/efo/EFO_0009071 +malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 +malignant migrating partial seizures of infancy http://purl.obolibrary.org/obo/MONDO_0017385 +malonic aciduria http://purl.obolibrary.org/obo/MONDO_0009556 +mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 +marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections http://www.ebi.ac.uk/efo/EFO_0009299 +megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://purl.obolibrary.org/obo/MONDO_0011313 +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 +mental retardation http://www.ebi.ac.uk/efo/EFO_0003847 +metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 +methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 +methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/MONDO_0010184 +microcephalic osteodysplastic primordial dwarfism type II http://purl.obolibrary.org/obo/MONDO_0008872 +microphthalmia, syndromic 2 http://purl.obolibrary.org/obo/MONDO_0010261 +migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 +mitochondrial complex I deficiency http://purl.obolibrary.org/obo/MONDO_0100133 +mitochondrial complex I deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100224 +monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 +mucopolysaccharidosis type 3B http://purl.obolibrary.org/obo/MONDO_0009656 +mucopolysaccharidosis type 3C http://purl.obolibrary.org/obo/MONDO_0009657 +mucopolysaccharidosis type 4A http://purl.obolibrary.org/obo/MONDO_0009659 +mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 +mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 +multiple acyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 +multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 +multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 +multiple endocrine neoplasia type 2 http://purl.obolibrary.org/obo/MONDO_0019003 +multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 +muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 http://purl.obolibrary.org/obo/MONDO_0013160 +myasthenic syndrome, congenital, 22 http://purl.obolibrary.org/obo/MONDO_0044299 +myoclonic epilepsy http://www.ebi.ac.uk/efo/EFO_1001900 +myoclonic-astastic epilepsy http://purl.obolibrary.org/obo/MONDO_0016025 +myofibrillar myopathy 1 http://purl.obolibrary.org/obo/MONDO_0011076 +myopathy http://www.ebi.ac.uk/efo/EFO_0004145 +myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 +myotonic dystrophy type 1 http://purl.obolibrary.org/obo/MONDO_0008056 +nemaline myopathy http://purl.obolibrary.org/obo/MONDO_0018958 +nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0009725 +neonatal inflammatory skin and bowel disease http://purl.obolibrary.org/obo/MONDO_0017411 +nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 +nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0013917 +nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0013163 +nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0010974 +neuralgic amyotrophy http://purl.obolibrary.org/obo/MONDO_0017362 +neuroblastoma http://www.ebi.ac.uk/efo/EFO_0000621 +neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 +neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 +neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 +neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language http://purl.obolibrary.org/obo/MONDO_0013266 +neurofibromatosis type 1 http://purl.obolibrary.org/obo/MONDO_0018975 +neuromuscular disease caused by qualitative or quantitative defects of dystrophin http://purl.obolibrary.org/obo/MONDO_0016147 +neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 +neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 +neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 +neuronopathy, distal hereditary motor, type 2B http://purl.obolibrary.org/obo/MONDO_0012080 +neuronopathy, distal hereditary motor, type 7B http://purl.obolibrary.org/obo/MONDO_0011879 +neuropathy, hereditary sensory, type 2C http://purl.obolibrary.org/obo/MONDO_0013634 +neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 +non-syndromic male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0017173 +obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 +occipital horn syndrome http://purl.obolibrary.org/obo/MONDO_0010572 +oculocutaneous albinism type 2 http://purl.obolibrary.org/obo/MONDO_0008746 +oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 +ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 +ornithine translocase deficiency http://purl.obolibrary.org/obo/MONDO_0009393 +osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 +otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0010571 +paramyotonia congenita of Von Eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 +parathyroid adenoma http://www.ebi.ac.uk/efo/EFO_1001087 +parietal foramina http://purl.obolibrary.org/obo/MONDO_0018953 +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0012309 +paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 +paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 +peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019234 +peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 +peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 +pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 +pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 +polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 +preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 +pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 +premature ovarian failure 1 http://purl.obolibrary.org/obo/MONDO_0010706 +primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 +primary familial polycythemia due to EPO receptor mutation http://purl.obolibrary.org/obo/MONDO_0007572 +primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0015823 +primary ovarian insufficiency http://www.ebi.ac.uk/efo/EFO_0004266 +progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 +progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 +progressive pseudorheumatoid arthropathy of childhood http://purl.obolibrary.org/obo/MONDO_0008827 +prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 +propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 +prostate cancer http://purl.obolibrary.org/obo/MONDO_0008315 +prostate carcinoma http://www.ebi.ac.uk/efo/EFO_0001663 +protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/MONDO_0060729 +psoriasis http://www.ebi.ac.uk/efo/EFO_0000676 +psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 +pulmonary arterial hypertension http://www.ebi.ac.uk/efo/EFO_0001361 +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, 1 http://www.ebi.ac.uk/efo/EFO_1001501 +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 +pyogenic bacterial infections due to MyD88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 +rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 +recessive amelogenesis imperfecta http://www.ebi.ac.uk/efo/EFO_0021800 +recessive lissencephaly http://www.ebi.ac.uk/efo/EFO_0011063 +renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 +retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 +retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 +retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_1060144 +retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0054708 +retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 +retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0010775 +retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 +rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0013224 +ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 +sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 +seizures, benign familial infantile, 3 http://purl.obolibrary.org/obo/MONDO_0011904 +septooptic dysplasia http://purl.obolibrary.org/obo/MONDO_0008428 +severe combined immunodeficiency due to DNA-PKcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 +severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 +severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 +short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 +short stature due to GHSR deficiency http://purl.obolibrary.org/obo/MONDO_0014403 +short-rib thoracic dysplasia 9 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0009964 +skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 +spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 +spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0013070 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 +spondylometaphyseal dysplasia, Kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 +sporadic amyotrophic lateral sclerosis http://www.ebi.ac.uk/efo/EFO_0001357 +squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 +sulfite oxidase deficiency due to molybdenum cofactor deficiency type C http://purl.obolibrary.org/obo/MONDO_0014212 +telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 +thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 +thrombophilia due to protein C deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0008316 +tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 +tooth agenesis http://www.ebi.ac.uk/efo/EFO_0005410 +tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 +transcobalamin II deficiency http://purl.obolibrary.org/obo/MONDO_0010149 +tuberous sclerosis http://purl.obolibrary.org/obo/MONDO_0001734 +tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0008612 +tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0013199 +tubular aggregate myopathy http://purl.obolibrary.org/obo/MONDO_0008051 +undetermined early-onset epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0018614 +uterine neoplasm http://www.ebi.ac.uk/efo/EFO_0003859 +very long chain acyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 +von Hippel-Lindau disease http://purl.obolibrary.org/obo/MONDO_0008667 +xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 diff --git a/tests/pipelines/resources/finished_curation_spreadsheet.csv b/tests/pipelines/resources/finished_curation_spreadsheet.csv index 92e32e3e..572def4b 100644 --- a/tests/pipelines/resources/finished_curation_spreadsheet.csv +++ b/tests/pipelines/resources/finished_curation_spreadsheet.csv @@ -43,6 +43,6 @@ http://www.orpha.net/ORDO/Orphanet_1872,Cone rod dystrophy,FALSE,TRUE,http://www http://purl.obolibrary.org/obo/MONDO_0008223,hypokalemic periodic paralysis,FALSE,TRUE,http://purl.obolibrary.org/obo/MONDO_0008223|hypokalemic periodic paralysis|TOKEN_MATCH_LABEL|EFO_CURRENT,DONE,,"hypokalemic periodic paralysis, type 2",1,,http://purl.obolibrary.org/obo/MONDO_0008223|hypokalemic periodic paralysis|TOKEN_MATCH_LABEL|EFO_CURRENT,,"http://purl.obolibrary.org/obo/MONDO_0013234|hypokalemic periodic paralysis, type 2|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO",,"http://id.nlm.nih.gov/mesh/C567635|Hypokalemic Periodic Paralysis, Type 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO","http://purl.obolibrary.org/obo/MONDO_0013234|hypokalemic periodic paralysis, type 2|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO",,,,,,, http://purl.obolibrary.org/obo/MONDO_0019501,Usher syndrome,FALSE,TRUE,http://purl.obolibrary.org/obo/MONDO_0019501|Usher syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT,DONE,,retinitis pigmentosa-deafness syndrome,1,,http://purl.obolibrary.org/obo/MONDO_0019501|Usher syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0010775|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|MONDO_HP_NOT_EFO,,http://snomed.info/id/57838006|Retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,http://purl.obolibrary.org/obo/DOID_0110829|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,http://purl.obolibrary.org/obo/MONDO_0019501|Usher syndrome|TOKEN_MATCH_LABEL|EFO_CURRENT,http://www.orpha.net/ORDO/Orphanet_886|Usher syndrome|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO,http://id.nlm.nih.gov/mesh/D052245|Usher Syndromes|TOKEN_MATCH_LABEL|NOT_MONDO_HP_EFO,http://purl.obolibrary.org/obo/MONDO_0010775|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,http://purl.obolibrary.org/obo/MONDO_0010775|retinitis pigmentosa-deafness syndrome|EXACT_MATCH_LABEL|NOT_MONDO_HP_EFO,, -,-,-,-,,,,autosomal dominant kcnq1-related disease,1,,,,,,,,,,,,,, --,-,-,-,,,,isolated nonsyndromic congenital heart disease,1,,,,,,,,,,,,,, +http://purl.obolibrary.org/obo/UBERON_0000948,heart,FALSE,TRUE,http://purl.obolibrary.org/obo/UBERON_0000948|heart|TOKEN_MATCH_LABEL|EFO_CURRENT,DONE,,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,,,,, diff --git a/tests/pipelines/test_curation_pipelines.sh b/tests/pipelines/test_curation_pipelines.sh index df23a216..2aab1639 100644 --- a/tests/pipelines/test_curation_pipelines.sh +++ b/tests/pipelines/test_curation_pipelines.sh @@ -13,6 +13,8 @@ BATCH_ROOT=${BATCH_ROOT_BASE}/test_batch mkdir -p ${BATCH_ROOT} cd ${BATCH_ROOT} +OT_SCHEMA_VERSION=$(cat "${CODE_ROOT}/OT_SCHEMA_VERSION") + nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ --curation_root ${BATCH_ROOT} \ --clinvar ${BATCH_ROOT_BASE}/input.xml.gz \ @@ -25,9 +27,11 @@ diff ${BATCH_ROOT}/google_sheets_table.tsv ${BATCH_ROOT_BASE}/expected/google_sh nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ --curation_root ${BATCH_ROOT} \ --input_csv ${BATCH_ROOT_BASE}/finished_curation_spreadsheet.csv \ + --schema ${OT_SCHEMA_VERSION} \ -resume diff ${BATCH_ROOT}/curator_comments.tsv ${BATCH_ROOT_BASE}/expected/curator_comments.tsv +diff ${BATCH_ROOT}/mappings_no_header_nonmatching.tsv ${BATCH_ROOT_BASE}/expected/mappings_no_header_nonmatching.tsv diff -I '^#generated-date' ${BATCH_ROOT}/trait_names_to_ontology_mappings.tsv ${BATCH_ROOT_BASE}/expected/trait_names_to_ontology_mappings.tsv cd ${CWD}