ZFIN Human Disease: hereditary arterial and articular multiple calcification syndrome

OBO ID: DOID:0111582

Term Name:	hereditary arterial and articular multiple calcification syndrome		Search Ontology:
Synonyms:	arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries CALJA
Definition:	A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. https://www.ncbi.nlm.nih.gov/pubmed/21288095
References:	GARD:10762 OMIM:211800 ORDO:289601
Ontology:	Human Disease ( DOID:0111582 )

Relationships

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

OTHER hereditary arterial and articular multiple calcification syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NT5E	nt5e	Calcification of joints and arteries	211800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None