ZFIN Human Disease: multicentric carpotarsal osteolysis syndrome

OBO ID: DOID:0111534

Term Name:	multicentric carpotarsal osteolysis syndrome		Search Ontology:
Synonyms:	autosomal dominant multicentric osteolysis hereditary osteolysis of carpal bones with or without nephropathy idiopathic multicentric osteolysis with or without nephropathy MCTO multicentric carpo-tarsal osteolysis with or without nephropathy multicentric osteolysis nephropathy
Definition:	A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (2)
References:	GARD:3818 MESH:C567171 NCI:C178416 OMIM:166300 ORDO:2774 SNOMEDCT_US_2023_03_01:766992008 UMLS_CUI:C2674705
Ontology:	Human Disease ( DOID:0111534 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER multicentric carpotarsal osteolysis syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MAFB	mafbb mafba	Multicentric carpotarsal osteolysis syndrome	166300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)