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hereditary arterial and articular multiple calcification syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008895

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. [ Orphanet:289601 ]

Term info

database cross reference
  • Orphanet:289601 (OMIM:211800)
  • UMLS:C4305347 (MONDO:equivalentTo)
  • GARD:0010762 (MONDO:equivalentTo)
  • SCTID:718602007 (MONDO:equivalentTo)
  • OMIM:211800 (Orphanet:289601/e)
  • MESH:C565891 (MONDO:equivalentTo)
  • DOID:0111582 (MONDO:equivalentTo)
  • UMLS:C1859372 (OMIM:211800)
Subsets

ordo_disease

abbreviation
ACDC [ GARD:0010762 ]

abbreviation
CALJA [ Orphanet:289601 OMIM:211800 MONDO:Lexical ]

definition

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.

exactMatch

https://omim.org/entry/211800, http://identifiers.org/mesh/C565891, http://purl.obolibrary.org/obo/Orphanet_289601, http://purl.obolibrary.org/obo/DOID_0111582, http://identifiers.org/snomedct/718602007, http://linkedlifedata.com/resource/umls/id/C1859372, http://linkedlifedata.com/resource/umls/id/C4305347

has exact synonym

CALJA, calcification of joints and arteries

has related synonym

arterial calcification and distal joint calcification, arterial calcification due to deficiency of Cd73, arterial calcification due to CD73 deficiency, ACDC

id

MONDO:0008895

Term relations