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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618170
http://purl.bioontology.org/ontology/OMIM/618170
|
|---|---|
| Preferred Name | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES |
| Synonyms |
CONDSIAS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CONDSIAS
|
|---|---|
| prefLabel | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
|
| Gene Symbol |
CONDSIAS
ARH3
ADPRHL2
ADPRS
|
| Scope Statement | Highly variable severity and features [MISCELLANEOUS]
Episodic deterioration associated with stress or fever [MISCELLANEOUS]
Sudden death in childhood may occur [MISCELLANEOUS]
Caused by mutation in the ADP-ribosylserine hydrolase gene (ADPRS, 610624.0001) [MOLECULAR BASIS]
Onset in first years of life after normal early development [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p35.3-p34.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618170
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748527
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |