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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/219150
http://purl.bioontology.org/ontology/OMIM/219150
|
|---|---|
| Preferred Name | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA |
| Synonyms |
CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION
DE BARSY SYNDROME A
PROGEROID SYNDROME OF DE BARSY
ARCL3A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION
DE BARSY SYNDROME A
PROGEROID SYNDROME OF DE BARSY
ARCL3A
|
|---|---|
| prefLabel | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
|
| Gene Symbol |
ARCL3A
GSAS
ALDH18A1
ADCL3
PYCS
SPG9A
SPG9B
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|
| notation | 219150
|
| Scope Statement | Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0001) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 612652
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 10q24.3
|
| tui | T047
|
| cui | C5234852
|
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