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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/166300
http://purl.bioontology.org/ontology/OMIM/166300
|
|---|---|
| Preferred Name | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME |
| Synonyms |
MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT
MCTO
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT
MCTO
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY
|
|---|---|
| prefLabel | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
|
| Gene Symbol |
MAFB
KRML
DURS3
MCTO
|
| Scope Statement | Caused by mutation in the MAF bZIP transcription factor B gene (MAFB, 608968.0001) [MOLECULAR BASIS]
Onset in infancy-early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 20q11.2-q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 166300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2674705
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |