Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620653
http://purl.bioontology.org/ontology/OMIM/620653
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY |
| Synonyms |
MRT80
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MRT80
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY
|
| Gene Symbol |
CASP2
ICH1
NEDD2
MRT80
|
| Scope Statement | Onset in infancy or early childhood [MISCELLANEOUS]
Caused by mutation in the caspase 2, apoptosis-related cysteine protease gene (CASP2, 600639.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 7q35
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620653
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882733
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |