Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619487
http://purl.bioontology.org/ontology/OMIM/619487
|
|---|---|
| Preferred Name | AICARDI-GOUTIERES SYNDROME 9 |
| Synonyms |
AGS9
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | AGS9
|
|---|---|
| prefLabel | AICARDI-GOUTIERES SYNDROME 9
|
| Gene Symbol |
RNU7-1
RNU7
AGS9
|
| Scope Statement | Inter- and intrafamilial variability [MISCELLANEOUS]
Caused by mutation in the RNA, small nuclear-7, 1 gene (RNA7-1, 617876.0001) version with annotations [MOLECULAR BASIS]
Cognition may be preserved in some patients [MISCELLANEOUS]
Death may occur in childhood due to organ failure or progressive neurologic deterioration [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 12p13.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619487
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5561966
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |