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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618276
http://purl.bioontology.org/ontology/OMIM/618276
|
|---|---|
| Preferred Name | NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY |
| Synonyms |
CONDCA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CONDCA
|
|---|---|
| prefLabel | NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
|
| Gene Symbol |
NNA1
KIAA1035
CCP1
AGTPBP1
CONDCA
|
| Scope Statement | Onset in first months of life [MISCELLANEOUS]
Caused by mutation in the ATP/GTP-binding protein 1 gene (AGTPBP1, 606830.0001) [MOLECULAR BASIS]
Death in childhood may occur [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 9q21.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618276
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748934
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |