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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620820
http://purl.bioontology.org/ontology/OMIM/620820
|
|---|---|
| Preferred Name | EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME |
| Synonyms |
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH, IMPAIRED INTELLECTUAL DEVELOPMENT, AND AUTISM
NEDEHC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH, IMPAIRED INTELLECTUAL DEVELOPMENT, AND AUTISM
NEDEHC
|
|---|---|
| prefLabel | EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
|
| Gene Symbol |
RBBP2
NEDEHC
JARID1A
RBP2
KDM5A
|
| Scope Statement | Caused by mutation in the lysine demethylase 5A gene (KDM5A, 180202.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12p11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620820
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5935620
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |