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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615516
http://purl.bioontology.org/ontology/OMIM/615516
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38 |
| Synonyms |
MRT38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRT38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38
|
| Gene Symbol |
MRT38
HERC2
SHEP1
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Reported in individuals of Amish or Mennonite descent [MISCELLANEOUS]
Caused by mutation in the HECT domain and RCC1-like domain 2 (HERC2, 605837.0004) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615516
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809753
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |