Disease or phenotype MONDO
autosomal dominant disease
MONDO_0000426 in Open Targets Platform 26.06, filed under genetic, familial or congenital disease. The targets below are ranked by the Platform's association score, which the Platform says is not a confidence score; the ClinGen card is a separate question, whether variation in a gene causes a monogenic disease.
Which targets
Indirect is the Platform's own default when listing a disease's targets: the evidence of the term's ontology descendants counts. Direct counts the evidence between the two terms alone. The page says which it shows.
01The term
About this term, from the Platform
What this tells you
The name, the therapeutic areas, the parents and the children in the strip are read from the disease dataset of Open Targets Platform 26.06, built into this site on 2026-09-09; the description, the synonyms and the ranked targets are read live from the Platform's API, which names the same release on every answer, and every figure on this page is the Platform's own.
What the entity is, in the Platform's words: A disease or phenotype in the Platform is understood as any disease, phenotype, biological process or measurement that might have any type of causality relationship with a human target. The EMBL-EBI Experimental Factor Ontology (EFO) is used as scaffold for the disease or phenotype entity.
[R16] So a measurement or a biological process has a page here like a disease, and the therapeutic areas in the strip say which kind of term it is. What a target is: A target in the Platform is understood as any naturally-occurring molecule that can be targeted by a medicinal product. EMBL-EBI's Ensembl database is used as source for human targets in the Platform, with the Ensembl gene ID as the primary identifier.
[R18]
The ranking is by the Platform's overall association score: The overall association score aims to summarise all the aggregated evidence for a given target-disease association. The score is derived by calculating the harmonic sum of the association score by data source weighted by the data source weights, regardless of their data type categorisation.
[R15] And what the score is not: While scores are useful to rank lists of targets or diseases, they should not be interpreted as a confidence score for the target-disease association.
[R15] For example, under-studied diseases are unlikely to produce high-scoring targets due to the lack of available evidence. In such diseases, a relatively low-scoring target might still be the top-ranked target and potentially a very interesting lead from a therapeutic standpoint.
[R15]
Two views, in the Platform's words. Direct: The Platform refers to associations described by aggregated evidence between two specific terms in our data sources as direct associations.
[R15] Indirect, the Platform's own default when listing the targets of a disease: An association page for targets associated with a disease (e.g. Inflammatory Bowel Disease associations page) includes both direct and indirect evidence.
[R15] One data type is never propagated: RNA expression data type evidence is not propagated in the ontology. We made this decision to prevent parent terms from having long lists of associated targets with weak RNA expression association scores.
[R15]
The data are public domain, Open Targets Platform is marked with CC0 1.0. This dedicates the data to the public domain, allowing downstream users to consume the data without restriction.
[R14] and the Platform asks that its latest publication be cited [R17], which is [R03].
A target high on this list is a gene the Platform's sources associate with this term by the Platform's arithmetic over their evidence; choosing a knockdown target from it means reading the evidence behind the row on the Platform's own page, which each row links to, and the order of two rows that share a score can differ between requests, which the page says when it happens.
- [R03] Buniello A, Suveges D, Cruz-Castillo C, Llinares MB, Cornu H, Lopez I, et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research 53:D1467-D1475. PMID 39657122, doi 10.1093/nar/gkae1128.
- [R14] Open Targets Platform Documentation. Licence. https://platform-docs.opentargets.org/licence, read 2026-09-09.
- [R15] Open Targets Platform Documentation. Target-disease associations. https://platform-docs.opentargets.org/associations, read 2026-09-09.
- [R16] Open Targets Platform Documentation. Disease or Phenotype. https://platform-docs.opentargets.org/disease-or-phenotype, read 2026-09-09.
- [R17] Open Targets Platform Documentation. Citation. https://platform-docs.opentargets.org/citation, read 2026-09-09.
- [R18] Open Targets Platform Documentation. Target. https://platform-docs.opentargets.org/target, read 2026-09-09.
02Ranked targets
Targets the Platform ranks for this term, indirect view
03ClinGen
Gene-disease validity curations for this MONDO term
What this tells you
The curations are read from ClinGen's gene-disease validity download, keyed on the MONDO term Open Targets writes for this entity after an exact character translation and never after a search; a term of another ontology has no counterpart in that file, and the card says so. Each row shows which of ClinGen's classifications it carries, with the procedure version and the date it was made under; nothing here ranks the classifications.
What a classification is about, in ClinGen's words: The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular monogenic disease.
[R20] And what the process is not: This curation process is not intended to be a systematic review of all available literature for a given gene or condition, but instead an overview of the most pertinent evidence required to assign the appropriate classification for a gene-disease relationship at a given time.
[R21]
The classification vocabulary is the 8 values ClinGen's own results table lists in its Classification filter control, in the control's own alphabetical order [R23]: Animal Model Only, Definitive, Disputed, Limited, Moderate, No Known Disease Relationship, Refuted, Strong. The order is the control's and carries no strength: nothing here ranks the values, and a value outside that set is shown as the file writes it and marked as unlisted, never mapped to a neighbour. The definitions of the values are in the standard operating procedure, which ClinGen publishes as a document [R22]; this site has not read that document, so no definition is stated here, and the framework paper the procedure rests on is [R06]. Each row carries the procedure version it was made under, as the table does, because rows made under different versions sit side by side.
ClinGen's curated content is public domain: All curated content published by ClinGen is available free of restriction under the CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. However, ClinGen requests that you give attribution to ClinGen and provide the date accessed whenever possible and appropriate.
[R19] The attribution in the card's provenance line follows ClinGen's own example statement, and no logo is shown: The ClinGen logo cannot be used without prior approval of the ClinGen Steering Committee.
[R19] ClinGen asks that its marker paper [R04] and its 2024 consortium paper [R05] be cited.
A ClinGen classification is a statement about whether variation in a gene causes a monogenic disease. It is not a statement about whether the gene is a knockdown target, and it is not a rank beside the Platform's score above it.
- [R04] Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. (2015). ClinGen--the Clinical Genome Resource. N Engl J Med 372:2235-2242. PMID 26014595, doi 10.1056/NEJMsr1406261.
- [R05] ClinGen Consortium (2025). The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation. Genet Med 27:101228. PMID 39404758, doi 10.1016/j.gim.2024.101228.
- [R06] Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, et al. (2017). Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet 100:895-906. PMID 28552198, doi 10.1016/j.ajhg.2017.04.015.
- [R19] ClinGen, Clinical Genome Resource. Citing ClinGen & Terms of Use. https://clinicalgenome.org/docs/terms-of-use/, read 2026-09-09.
- [R20] ClinGen, Clinical Genome Resource. Gene-Disease Validity. https://clinicalgenome.org/curation-activities/gene-disease-validity/, read 2026-09-09.
- [R21] ClinGen, Clinical Genome Resource. Gene-Disease Validity Standard Operating Procedure. https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure/, read 2026-09-09.
- [R22] ClinGen, Clinical Genome Resource. Gene-Disease Validity Standard Operating Procedures, Version 12. https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedures-version-12/, read 2026-09-09.
- [R23] ClinGen, Clinical Genome Resource. ClinGen Gene-Disease Validity Curations. https://search.clinicalgenome.org/kb/gene-validity, read 2026-09-09.
04The ontology
Where the release places this term
Children
- autosomal dominant polycystic liver diseaseMONDO_0000447
- cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1MONDO_0000914
- tuberous sclerosisMONDO_0001734
- Treacher-Collins syndromeMONDO_0002457
- hereditary breast ovarian cancer syndromeMONDO_0003582
- autosomal dominant polycystic kidney diseaseMONDO_0004691
- Lynch syndromeMONDO_0005835
- branchio-oto-renal syndromeMONDO_0007029
- acroosteolysis dominant typeMONDO_0007057
- ADULT syndromeMONDO_0007072
- autosomal dominant Alport syndromeMONDO_0007086
- Townes-Brocks syndromeMONDO_0007142
- nevoid basal cell carcinoma syndromeMONDO_0007187
- blepharophimosis, ptosis, and epicanthus inversus syndromeMONDO_0007201
- autosomal dominant brachyolmiaMONDO_0007232
- branchiooculofacial syndromeMONDO_0007235
- pheochromocytoma/paraganglioma syndrome 4MONDO_0007273
- cataract-aberrant oral frenula-growth delay syndromeMONDO_0007277
- cherubismMONDO_0007315
- autosomal dominant chondrodysplasia punctataMONDO_0007321
- autosomal dominant popliteal pterygium syndromeMONDO_0007334
- blepharocheilodontic syndromeMONDO_0007339
- cochleosaccular degeneration-cataract syndromeMONDO_0007346
- renal coloboma syndromeMONDO_0007352
- Beare-Stevenson cutis gyrata syndromeMONDO_0007412
- autosomal dominant vibratory urticariaMONDO_0007447
- neurohypophyseal diabetes insipidusMONDO_0007450
- autosomal dominant Kenny-Caffey syndromeMONDO_0007478
- Rapp-Hodgkin syndromeMONDO_0007508
- Ehlers-Danlos syndrome, classic typeMONDO_0007522
- autosomal dominant Ehlers-Danlos syndrome, vascular typeMONDO_0007524
- multiple endocrine neoplasia type 1MONDO_0007540
- Coffin-Siris syndrome 1MONDO_0007617
- isolated congenital adermatoglyphiaMONDO_0007619
- Flynn-Aird syndromeMONDO_0007624
- Frasier syndromeMONDO_0007635
- hand-foot-genital syndromeMONDO_0007698
- Holt-Oram syndromeMONDO_0007732
- hyperkeratosis-hyperpigmentation syndromeMONDO_0007757
- autosomal dominant ichthyosis vulgarisMONDO_0007810
- hyper-IgE recurrent infection syndrome 1, autosomal dominantMONDO_0007818
- autosomal dominant keratitisMONDO_0007848
- autosomal dominant keratitis-ichthyosis-hearing loss syndromeMONDO_0007850
- LADD syndromeMONDO_0007872
- trichorhinophalangeal syndrome type IIMONDO_0007874
- Noonan syndrome with multiple lentiginesMONDO_0007893
- microcephaly with or without chorioretinopathy, lymphedema, or intellectual disabilityMONDO_0007918
- Marfan syndromeMONDO_0007947
- melanoma, cutaneous malignant, susceptibility to, 2MONDO_0007964
- autosomal dominant primary microcephalyMONDO_0007988
- autosomal dominant progressive external ophthalmoplegiaMONDO_0008003
- monilethrixMONDO_0008009
- Muir-Torre syndromeMONDO_0008018
- autosomal dominant myoglobinuriaMONDO_0008046
- autosomal dominant centronuclear myopathyMONDO_0008048
- nail-patella syndromeMONDO_0008061
- multiple endocrine neoplasia type 2BMONDO_0008082
- autosomal dominant omodysplasiaMONDO_0008123
- pheochromocytoma/paraganglioma syndrome 1MONDO_0008192
- Pelger-Huet anomalyMONDO_0008214
- multiple endocrine neoplasia type 2AMONDO_0008234
- piebaldismMONDO_0008244
- autosomal dominant medullary cystic kidney disease with or without hyperuricemiaMONDO_0008264
- generalized juvenile polyposis/juvenile polyposis coliMONDO_0008276
- juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeMONDO_0008278
- Peutz-Jeghers syndromeMONDO_0008280
- contractures, pterygia, and spondylocarpotarsal fusion syndrome 1AMONDO_0008338
- autosomal dominant distal renal tubular acidosisMONDO_0008368
- retinoschisis, autosomal dominantMONDO_0008382
- autosomal dominant Robinow syndromeMONDO_0008389
- scapuloperoneal spinal muscular atrophy, autosomal dominantMONDO_0008408
- autosomal dominant sideroblastic anemiaMONDO_0008422
- spondyloepiphyseal dysplasia tarda, autosomal dominantMONDO_0008474
- proximal symphalangismMONDO_0008511
- thanatophoric dysplasia type 1MONDO_0008546
- trichorhinophalangeal syndrome type IMONDO_0008596
- Muckle-Wells syndromeMONDO_0008633
- autosomal dominant hypophosphatemic ricketsMONDO_0008660
- von Hippel-Lindau diseaseMONDO_0008667
- Denys-Drash syndromeMONDO_0008682
- autosomal dominant severe congenital neutropeniaMONDO_0008742
- Costello syndromeMONDO_0009026
- EEC syndromeMONDO_0010004
- multiple cutaneous and mucosal venous malformationsMONDO_0010842
- diffuse nonepidermolytic palmoplantar keratodermaMONDO_0010962
- Timothy syndromeMONDO_0010979
- pheochromocytoma/paraganglioma syndrome 2MONDO_0011121
- spondyloepimetaphyseal dysplasia with multiple dislocationsMONDO_0011335
- Brooke-Spiegler syndromeMONDO_0011512
- macrocephaly-autism syndromeMONDO_0011537
- pheochromocytoma/paraganglioma syndrome 3MONDO_0011544
- Duane-radial ray syndromeMONDO_0011812
- PCWH syndromeMONDO_0012198
- heart-hand syndrome, Slovenian typeMONDO_0012417
- congenital stationary night blindness autosomal dominant 3MONDO_0012497
- mandibulofacial dysostosis-microcephaly syndromeMONDO_0012516
- multiple endocrine neoplasia type 4MONDO_0012552
- juvenile cataract-microcornea-renal glucosuria syndromeMONDO_0012786
- Crouzon syndrome-acanthosis nigricans syndromeMONDO_0012833
- Birk-Barel syndromeMONDO_0012856
- thrombophilia due to protein S deficiency, autosomal dominantMONDO_0012868
- dyskeratosis congenita, autosomal dominant 2MONDO_0013521
- dyskeratosis congenita, autosomal dominant 3MONDO_0013522
- colorectal cancer, hereditary nonpolyposis, type 6MONDO_0013695
- intellectual disability, autosomal dominant 14MONDO_0013819
- intellectual disability, autosomal dominant 15MONDO_0013820
- intellectual disability, autosomal dominant 16MONDO_0013821
- hypopigmentation-punctate palmoplantar keratoderma syndromeMONDO_0014227
- intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyMONDO_0014336
- postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeMONDO_0014369
- intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadismMONDO_0014376
- intellectual disability, autosomal dominant 29MONDO_0014482
- intellectual disability, autosomal dominant 30MONDO_0014486
- Houge-Janssens syndrome 2MONDO_0014605
- severe achondroplasia-developmental delay-acanthosis nigricans syndromeMONDO_0014658
- dyskeratosis congenita, autosomal dominant 6MONDO_0014690
- epidermolysis bullosa simplex 6, generalized, with scarring and hair lossMONDO_0015006
- autosomal dominant complex spastic paraplegiaMONDO_0015087
- early-onset autosomal dominant Alzheimer diseaseMONDO_0015140
- muscular dystrophy, limb-girdle, autosomal dominantMONDO_0015151
- Feingold syndromeMONDO_0015267
- Carney complexMONDO_0015285
- neuronopathy, distal hereditary motor, autosomal dominantMONDO_0015362
- autosomal dominant coarctation of aortaMONDO_0015445
- autosomal dominant spondylocostal dysostosisMONDO_0015826
- autosomal dominant hypohidrotic ectodermal dysplasiaMONDO_0015884
- Cowden diseaseMONDO_0016063
- autosomal dominant distal myopathyMONDO_0016108
- autosomal dominant rhegmatogenous retinal detachmentMONDO_0016202
- palmoplantar keratoderma-spastic paralysis syndromeMONDO_0016353
- Alagille syndrome due to a JAG1 point mutationMONDO_0016862
- PTEN hamartoma tumor syndromeMONDO_0017623
- gastric adenocarcinoma and proximal polyposis of the stomachMONDO_0017790
- autosomal dominant proximal renal tubular acidosisMONDO_0017829
- autosomal dominant spastic ataxiaMONDO_0017846
- Waardenburg syndromeMONDO_0018094
- hereditary retinoblastomaMONDO_0018160
- autosomal dominant hypocalcemiaMONDO_0018543
- Li-Fraumeni syndromeMONDO_0018875
- Loeys-Dietz syndromeMONDO_0018954
- hereditary hemorrhagic telangiectasiaMONDO_0019180
- hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeMONDO_0019195
- microcephalic osteodysplastic dysplasia, Saul-Wilson typeMONDO_0019407
- autosomal dominant intermediate Charcot-Marie-Tooth diseaseMONDO_0019548
- autosomal dominant cutis laxaMONDO_0019571
- autosomal dominant nonsyndromic hearing lossMONDO_0019587
- autosomal dominant optic atrophyMONDO_0020250
- autosomal dominant Emery-Dreifuss muscular dystrophyMONDO_0020336
- autosomal dominant cerebellar ataxiaMONDO_0020380
- autosomal dominant osteopetrosisMONDO_0020645
- autosomal dominant epidermolytic ichthyosisMONDO_0020702
- ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromeMONDO_0020745
- distal arthrogryposis type 2B1MONDO_0020820
- neurofibromatosisMONDO_0021061
- autosomal dominant cataractMONDO_0022672
- glass-chapman-hockley syndromeMONDO_0023243
- arthrogryposis, distal, type 2B3MONDO_0032751
- Delpire-McNeill syndromeMONDO_0033667
- LAMA5-related multisystemic syndromeMONDO_0033856
- autosomal dominant oculocutaneous albinismMONDO_0040654
- Charcot-Marie-tooth disease, axonal, type 2DDMONDO_0054833
- intellectual disability, autosomal dominantMONDO_0100172
- GUCY2D-related dominant retinopathyMONDO_0100441
- RPE65-related dominant retinopathyMONDO_0100452
- autosomal dominant titinopathyMONDO_0100494
- NOG-related symphalangism spectrum disorderMONDO_0100521
- ALPL-related autosomal dominant hypophosphatasiaMONDO_0100608
- MYH10-related neurodevelopmental disorder with congenital anomaliesMONDO_0700281
- spastic paraplegia 30A, autosomal dominantMONDO_0700307
- MAX-related tumor predispositionMONDO_0700346
- BMPR1A-related juvenile polyposis syndromeMONDO_0700348
- Birt-Hogg-Dube syndromeMONDO_0800444
- inclusion body myopathy and brain white matter abnormalitiesMONDO_0850514
- KINSSHIP syndromeMONDO_0851095
- autosomal dominant nebulin-related myopathyMONDO_1010152
- IMPG1-related dominant retinopathyMONDO_1040036
- PROM1-related dominant retinopathyMONDO_1040053
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeMONDO_1060108
- FLNB-associated autosomal dominant filamin related bone disorderMONDO_1060173
- Menke-Hennekam syndrome 1EFO_0010252
- Menke-Hennekam syndrome 2EFO_0010253
- spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominantEFO_0010264
- GIST-plus syndromeEFO_0010279
- neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEFO_0010563
- intellectual developmental disorder 60 with seizuresEFO_0010566
- intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesEFO_0010630
- Snijders Blok-Fisher syndromeEFO_0010634
- Snijders Blok-Campeau syndromeEFO_0010643
- intellectual developmental disorder with impaired language and dysmorphic faciesEFO_0010651
- intellectual developmental disorder with speech delay, autism and dysmorphic faciesEFO_0010653
- megabladder, congenitalEFO_0010655
- neurodevelopmental disorder with dysmorphic facies and distal skeletal anomaliesEFO_0010659
- neurodevelopmental disorder with macrocephaly and with or without seizuresEFO_0010660
- neurodevelopmental disorder with non-specific brain abnormalities and with or without seizuresEFO_0010661
- neurooculocardiogenitourinary syndromeEFO_0010663
- pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5EFO_0010664
- autoinflammation with episodic fever and lymphadenopathyEFO_0010737
- epilepsy, early-onset, with or without developmental delayEFO_0010739
- Diets-Jongmans syndromeEFO_0010740
- autosomal dominant pure spastic paraplegiaEFO_0700026
- autosomal dominant hereditary sensory and autonomic neuropathyEFO_0700033
- autosomal dominant proximal spinal muscular atrophyEFO_0700051
- autosomal dominant secondary polycythemiaEFO_0700057
- sodium channelopathy-related small fiber neuropathyEFO_0700072
- trichorhinophalangeal syndrome type I or IIIEFO_0700103
Therapeutic areas
The same term as ClinGen's file writes it: MONDO:0000426 (the Monarch Initiative's page), by an exact character translation of the Platform's id.
- Open Targets Platform, the disease dataset · Open Targets Platform 26.06 · read · Open Targets PlatformOpen Targets Platform is marked with CC0 1.0. Citation requested: Buniello A et al., Nucleic Acids Research (2025), doi 10.1093/nar/gkae1128.