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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620439
http://purl.bioontology.org/ontology/OMIM/620439
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 |
| Synonyms |
MRD72
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MRD72
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72
|
| Gene Symbol |
SRM300
MRD72
KIAA0324
SRRM2
|
| Scope Statement | Variable features may be present MOLECULAR BASIS Caused by mutation in the serine/arginine repetitive matrix protein 2 gene (SRRM2, 606032.0001) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T048
|
| Gene Locus | 16p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620439
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830612
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |