Multicentric Carpotarsal Osteolysis Syndrome

Preferred Label : Multicentric Carpotarsal Osteolysis Syndrome;

NCIt synonyms : MCTO;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MAFB gene, encoding transcription factor MafB. It is characterized by progressive destruction of the carpal and tarsal bones, usually with onset in early childhood.;

Details

Origin ID

C178416;

UMLS CUI

C2674705;

Currated CISMeF NLP mapping
- Multicentric carpotarsal osteolysis syndrome [OMIM Phenotype]
- Multicentric carpotarsal osteolysis syndrome (disorder) [SNOMED CT concept]
- multicentric carpotarsal osteolysis syndrome [DO Concept]
See also inter- (CISMeF)
- Multicentric carpo-tarsal osteolysis with or without nephropathy [ORDO Disease]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH Supplementary Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multicentric carpotarsal osteolysis syndrome [OMIM Phenotype]
- Multicentric carpotarsal osteolysis syndrome (disorder) [SNOMED CT concept]
- multicentric carpotarsal osteolysis syndrome [DO Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH Supplementary Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MAFB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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