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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/601859
http://purl.bioontology.org/ontology/OMIM/601859
|
|---|---|
| Preferred Name | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
| Synonyms |
ALPS1B
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
ALPS1A
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
CANALE-SMITH SYNDROME
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ALPS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALPS1B
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
ALPS1A
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
CANALE-SMITH SYNDROME
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ALPS
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|---|---|
| prefLabel |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
|
| Gene Symbol |
TNFSF6
FASL
APT1LG1
ALPS1B
FASLG
|
| notation |
601859
|
| Scope Statement |
Caused by mutation in the Fas antigen gene (FAS, 134637.0001) [MOLECULAR BASIS]
Onset in early childhood [MISCELLANEOUS]
Caused by mutation in the Fas ligand gene (FASL, 134638.0001) [MOLECULAR BASIS]
Recessive inheritance has been reported [MISCELLANEOUS]
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| 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 |
1q23
|
| tui |
T047
|
| cui |
C1328840
C1866121
C1866119
C1866120
|
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