Disease or phenotype MONDO
Mendelian neurodevelopmental disorder
MONDO_0100500 in Open Targets Platform 26.06, filed under nervous system disorder, 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
- microcephaly and chorioretinopathyMONDO_0000181
- microcephaly with or without chorioretinopathy, lymphedema, or intellectual disabilityMONDO_0007918
- autosomal dominant primary microcephalyMONDO_0007988
- Prader-Willi syndromeMONDO_0008300
- Smith-Magenis syndromeMONDO_0008434
- microcephalic osteodysplastic primordial dwarfism type IMONDO_0008871
- microcephalic osteodysplastic primordial dwarfism type IIMONDO_0008872
- CK syndromeMONDO_0010441
- orofaciodigital syndrome IMONDO_0010702
- Rett syndromeMONDO_0010726
- Wieacker-Wolff syndromeMONDO_0010758
- Amish lethal microcephalyMONDO_0011790
- developmental delay with autism spectrum disorder and gait instabilityMONDO_0014224
- intellectual disability, autosomal dominant 29MONDO_0014482
- Au-Kline syndromeMONDO_0014700
- cerebellar atrophy, visual impairment, and psychomotor retardation;MONDO_0014811
- neurodevelopmental disorder with or without anomalies of the brain, eye, or heartMONDO_0014857
- Okur-Chung neurodevelopmental syndromeMONDO_0014893
- Harel-Yoon syndromeMONDO_0014958
- neurodevelopmental disorder with hypotonia, seizures, and absent languageMONDO_0014995
- alternating hemiplegia of childhoodMONDO_0016241
- autosomal recessive primary microcephalyMONDO_0016660
- Rubinstein-Taybi syndromeMONDO_0019188
- neurodevelopmental disorder with cerebellar atrophy and with or without seizuresMONDO_0020841
- neurodevelopmental disorder with or without autistic features and/or structural brain abnormalitiesMONDO_0030024
- neurodevelopmental disorder with hypotonia, microcephaly, and seizuresMONDO_0030025
- neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizuresMONDO_0030037
- neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityMONDO_0030046
- neurodevelopmental disorder with language impairment and behavioral abnormalitiesMONDO_0030060
- neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesMONDO_0030063
- neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesMONDO_0030837
- neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesMONDO_0030852
- neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesMONDO_0030866
- neurodevelopmental disorder with or without early-onset generalized epilepsyMONDO_0030930
- neurodevelopmental disorder with or without autism or seizuresMONDO_0030994
- neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphismMONDO_0030999
- neurodevelopmental disorder with dysmorphic facies and variable seizuresMONDO_0031011
- intellectual developmental disorder and retinitis pigmentosa; IDDRPMONDO_0032594
- neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaMONDO_0032661
- Houge-Janssens syndrome 3MONDO_0032697
- neurodevelopmental disorder with central and peripheral motor dysfunctionMONDO_0032698
- neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelinationMONDO_0032705
- neurodevelopmental disorder with impaired speech and hyperkinetic movementsMONDO_0032741
- developmental delay with variable intellectual impairment and behavioral abnormalitiesMONDO_0032745
- neurodevelopmental disorder with or without variable brain abnormalities; NEDBAMONDO_0032755
- neurodevelopmental disorder with seizures and speech and walking impairmentMONDO_0032775
- neurodevelopmental disorder with microcephaly and structural brain anomaliesMONDO_0032779
- neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalitiesMONDO_0032790
- neurodevelopmental disorder with visual defects and brain anomaliesMONDO_0032807
- neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesMONDO_0032829
- neurodevelopmental disorder with microcephaly, cortical malformations, and spasticityMONDO_0032887
- neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomaliesMONDO_0032888
- Poirier-Bienvenu neurodevelopmental syndromeMONDO_0032889
- neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyMONDO_0032894
- neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsMONDO_0032900
- neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationMONDO_0032921
- neurodevelopmental disorder with microcephaly and dysmorphic faciesMONDO_0032942
- neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomaliesMONDO_0032943
- neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotoniaMONDO_0033562
- neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesMONDO_0033613
- neurodevelopmental disorder with speech impairment and dysmorphic faciesMONDO_0033630
- neurodevelopmental disorder with alopecia and brain abnormalitiesMONDO_0033642
- neurodevelopmental disorder with seizures and brain atrophyMONDO_0033658
- neurodevelopmental disorder with microcephaly, seizures, and brain atrophyMONDO_0033662
- Delpire-McNeill syndromeMONDO_0033667
- neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelinationMONDO_0044306
- developmental delay and seizures with or without movement abnormalitiesMONDO_0044326
- Stankiewicz-Isidor syndromeMONDO_0054591
- neurodevelopmental disorder with midbrain and hindbrain malformationsMONDO_0056797
- neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesMONDO_0060490
- neurodevelopmental disorder with involuntary movementsMONDO_0060491
- neurodevelopmental disorder with hypotonia, neuropathy, and deafnessMONDO_0060496
- neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesMONDO_0060502
- neurodevelopmental disorder with microcephaly, ataxia, and seizuresMONDO_0060577
- neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresMONDO_0060578
- neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesMONDO_0060596
- neurodevelopmental disorder with microcephaly, seizures, and cortical atrophyMONDO_0060621
- neurodevelopmental disorder with severe motor impairment and absent languageMONDO_0060622
- neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matterMONDO_0060624
- neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyMONDO_0060640
- neurodevelopmental disorder with or without seizures and gait abnormalitiesMONDO_0060641
- neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic featuresMONDO_0060642
- neurodevelopmental disorder with poor language and loss of hand skillsMONDO_0060659
- neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesMONDO_0060664
- neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizuresMONDO_0060704
- neurodevelopmental disorder with spasticity and poor growthMONDO_0060752
- neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizuresMONDO_0060759
- neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosumMONDO_0060761
- FOXG1 disorderMONDO_0100040
- genetic developmental and epileptic encephalopathyMONDO_0100062
- X-linked complex neurodevelopmental disorderMONDO_0100148
- PPP2R1A-related intellectual disabilityMONDO_0100166
- intellectual disability, autosomal dominantMONDO_0100172
- CACNA1A-related complex neurodevelopmental disorderMONDO_0100254
- X-linked intellectual disabilityMONDO_0100284
- neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesMONDO_0100348
- KCNH1 associated disorderMONDO_0100485
- intellectual disability, autosomal recessiveMONDO_0100597
- FAT4-related neurodevelopmental disorderMONDO_0100603
- SOX11-related complex neurodevelopmental disorder with or without congenital anomaliesMONDO_0100626
- TUBB2A-related tubulinopathyMONDO_0700044
- microcephaly with lissencephaly and/or hydranencephalyMONDO_0700116
- MYH10-related neurodevelopmental disorder with congenital anomaliesMONDO_0700281
- SYNCRIP-related neurodevelopmental disorderMONDO_0800456
- HNRNPC-related neurodevelopmental disorderMONDO_0800457
- SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowthMONDO_0800477
- neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linkedMONDO_0859085
- Alzahrani-Kuwahara syndromeMONDO_0859136
- neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasiaMONDO_0859137
- neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaMONDO_0859141
- Hiatt-Neu-Cooper neurodevelopmental syndromeMONDO_0859142
- neurodevelopmental disorder with seizures and gingival overgrowthMONDO_0859148
- neurodevelopmental disorder with cerebellar atrophy and motor dysfunctionMONDO_0859152
- neurodevelopmental disorder with infantile epileptic spasmsMONDO_0859162
- neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalitiesMONDO_0859165
- neurodevelopmental disorder with motor and speech delay and behavioral abnormalitiesMONDO_0859176
- neurodevelopmental disorder with dysmorphic facies and thin corpus callosumMONDO_0859179
- neurodevelopmental disorder with hypotonia and dysmorphic faciesMONDO_0859185
- neurodevelopmental disorder with hypotonia and brain abnormalitiesMONDO_0859187
- neurodevelopmental disorder with seizures and brain abnormalitiesMONDO_0859188
- neurodevelopmental disorder with impaired language and ataxia and with or without seizuresMONDO_0859201
- neurodevelopmental disorder with hearing loss and spasticityMONDO_0859206
- neurodevelopmental disorder with hypotonia and gross motor and speech delayMONDO_0859207
- neurodevelopmental disorder with hyperkinetic movements and dyskinesiaMONDO_0859211
- neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonusMONDO_0859212
- Marbach-Schaaf neurodevelopmental syndromeMONDO_0859214
- neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasisMONDO_0859216
- Brunet-Wagner neurodevelopmental syndromeMONDO_0859217
- Ferguson-Bonni neurodevelopmental syndromeMONDO_0859220
- neurodevelopmental disorder with or without variable movement or behavioral abnormalitiesMONDO_0859225
- neurodevelopmental disorder with central hypotonia and dysmorphic faciesMONDO_0859232
- neurodevelopmental disorder with neuromuscular and skeletal abnormalitiesMONDO_0859236
- Chilton-Okur-Chung neurodevelopmental syndromeMONDO_0859239
- neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesMONDO_0859243
- parenti-mignot neurodevelopmental syndromeMONDO_0859249
- neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizuresMONDO_0859250
- Dentici-Novelli neurodevelopmental syndromeMONDO_0859251
- neurodevelopmental disorder with poor growth and skeletal anomaliesMONDO_0859252
- neurodevelopmental disorder with language delay and seizuresMONDO_0859256
- neurodevelopmental disorder with dystonia and seizuresMONDO_0859258
- Dworschak-Punetha neurodevelopmental syndromeMONDO_0859260
- neurodevelopmental disorder with epilepsy and brain atrophyMONDO_0859265
- neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyMONDO_0859266
- neurodevelopmental disorder with speech delay and variable ocular anomaliesMONDO_0859272
- neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesMONDO_0859274
- neurodevelopmental disorder with spasticity, seizures, and brain abnormalitiesMONDO_0859275
- neurodevelopmental disorder with microcephaly, movement abnormalities, and seizuresMONDO_0859282
- neurodevelopmental disorder with seizures, microcephaly, and brain abnormalitiesMONDO_0859283
- neurodevelopmental disorder with microcephaly, short stature, and speech delayMONDO_0859285
- neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresMONDO_0859286
- neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairmentMONDO_0859293
- neurodevelopmental disorder with short stature, prominent forehead, and feeding difficultiesMONDO_0859295
- neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalitiesMONDO_0859297
- neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomalyMONDO_0859298
- neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsMONDO_0859301
- neurodevelopmental disorder with eye movement abnormalities and ataxiaMONDO_0859305
- neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalitiesMONDO_0859312
- neurodevelopmental disorder with speech impairment and with or without seizuresMONDO_0859313
- neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalitiesMONDO_0859347
- neurodevelopmental disorder with poor growth, large ears, and dysmorphic faciesMONDO_0859350
- neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaMONDO_0859361
- neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizuresMONDO_0859365
- neurodevelopmental disorder with poor growth and behavioral abnormalitiesMONDO_0859377
- neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosumMONDO_0859516
- neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesMONDO_0859519
- neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresMONDO_0859531
- neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalitiesMONDO_0957218
- neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticityMONDO_0957267
- neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalitiesMONDO_0957386
- neurodevelopmental disorder with microcephaly and movement abnormalitiesMONDO_0957531
- neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresMONDO_0957541
- neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesMONDO_0957583
- neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic faciesMONDO_0957588
- neurodevelopmental disorder with language delay and variable cognitive abnormalitiesMONDO_0957779
- neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunctionMONDO_0957791
- Hao-Fountain syndrome due to USP7 mutationMONDO_0958071
- neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismMONDO_0958231
- neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesMONDO_0958240
- neurodevelopmental disorder with hypotonia and characteristic brain abnormalitiesMONDO_0958278
- neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalitiesMONDO_0958323
- Jeffries-Lakhani neurodevelopmental syndromeMONDO_0958329
- neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorderMONDO_0968945
- neurodevelopmental disorder plus optic atrophyMONDO_0968947
- neurodevelopmental disorder with progressive movement abnormalitiesMONDO_0968976
- aplasia cutis-enamel dysplasia syndromeMONDO_0968978
- neurodevelopmental disorder with hypotonia and seizuresMONDO_0968979
- El Hayek-Chahrour neurodevelopmental disorderMONDO_0970951
- neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalitiesMONDO_0971043
- neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent languageMONDO_0971172
- otofacial neurodevelopmental syndromeMONDO_0975705
- neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1MONDO_0975745
- Kariminejad neurodevelopmental syndromeMONDO_0975795
- Karayol-Borroto-Haghshenas neurodevelopmental syndromeMONDO_0975836
- neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalitiesMONDO_0975874
- neurodevelopmental disorder with variable familial hypercholanemiaMONDO_0975877
- intellectual developmental disorder with polymicrogyria and seizuresMONDO_0976124
- neurodevelopmental disorder with speech or visual impairment and brain hypomyelinationMONDO_0976125
- neurodevelopmental disorder with microcephaly, absent speech, and hypotoniaMONDO_0976126
- neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaMONDO_0976131
- neurodevelopmental disorder with progressive spasticity and brain abnormalitiesMONDO_0976233
- neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent languageMONDO_0976263
- neurodevelopmental disorder with white matter abnormalities and gait disturbanceMONDO_0976264
- neurodevelopmental disorder with poor growth, seizures, and brain abnormalitiesMONDO_0976265
- neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalitiesMONDO_0976285
- neurodevelopmental disorder with ataxia and brain abnormalitiesMONDO_0978300
- neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizuresMONDO_0978301
- Li-Takada-Miyake syndromeMONDO_0978303
- neurodevelopmental disorder with behavioral, ear, and skeletal abnormalitiesMONDO_0979245
- Nil-Deshwar neurodevelopmental syndromeMONDO_0979246
- neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaMONDO_0979875
- PIP5K1C-related neurodevelopmental disorderMONDO_1010145
- KCND2-related neurodevelopmental disorder with or without seizuresMONDO_1040003
- CTR9-related neurodevelopmental disorderMONDO_1040006
- CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathyMONDO_1040008
- PPFIA3-related neurodevelopmental disorderMONDO_1040014
- dyneinopathyMONDO_1040031
- MYCBP2-related developmental delay with corpus callosum defectsMONDO_1060117
- GRIN-related complex neurodevelopmental disorderMONDO_1060138
- RNU5B-1 related neurodevelopmental disorder with seizures and joint laxityMONDO_1060179
Therapeutic areas
The same term as ClinGen's file writes it: MONDO:0100500 (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.