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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607944
http://purl.bioontology.org/ontology/OMIM/607944
|
|---|---|
| Preferred Name | SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION |
| Synonyms |
ROIFMAN IMMUNOSKELETAL SYNDROME
SPENCD
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
SPENCDI
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ROIFMAN IMMUNOSKELETAL SYNDROME
SPENCD
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
SPENCDI
|
|---|---|
| prefLabel | SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
| Gene Symbol |
ACP5
SPENCDI
|
| Scope Statement | Variable severity, from infantile death due to autoimmune thrombocytopenia to isolated skeletal dysplasia in adult patient [MISCELLANEOUS]
Marked clinical variability, both within and between families [MISCELLANEOUS]
Caused by mutation in the acid phosphatase 5, tartrate resistant gene (ACP5, 171640.0001) [MOLECULAR BASIS]
Variable age at onset, from infancy to 15 years [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 19p13.3-p13.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607944
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1842763
|
| Moved from | 271550
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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