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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612936
http://purl.bioontology.org/ontology/OMIM/612936
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE |
| Synonyms |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY
SPG50
CPSQ3, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY
SPG50
CPSQ3, FORMERLY
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
SPG50
CPSQ3
AP4M1
|
| Scope Statement | Caused by mutation in the adaptor-related protein complex 4, MU-1 subunit gene (AP4M1, 602296.0001) [MOLECULAR BASIS]
Onset at birth or prenatally [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 7q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612936
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2752008
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |