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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/616200
http://purl.bioontology.org/ontology/OMIM/616200
|
|---|---|
| Preferred Name | RUIJS-AALFS SYNDROME |
| Synonyms |
RJALS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | RJALS
|
|---|---|
| prefLabel | RUIJS-AALFS SYNDROME
|
| Gene Symbol |
C1orf124
SPRTN
DVC1
RJALS
|
| notation | 616200
|
| Scope Statement | Caused by mutation in the SprT-like N-terminal domain-protein gene (SPLRTN, 616086.0001) [MOLECULAR BASIS]
Based on 3 patients from 2 families (last curated January 2015) [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1q42.2
|
| tui | T047
|
| cui | C4015461
|
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