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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/603909
http://purl.bioontology.org/ontology/OMIM/603909
|
|---|---|
| Preferred Name | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA |
| Synonyms |
ALPS2
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II
ALPS2A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALPS2
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II
ALPS2A
|
|---|---|
| prefLabel | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
|
| Gene Symbol |
CASP10
ALPS2
MCH4
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Caused by mutations in the caspase 10 gene (CASP10, 601762.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q33-q34
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 603909
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1858968
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |