multicentric carpo-tarsal osteolysis with or without nephropathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0008152


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. [ Orphanet:2774 ]

Synonyms: multicentric carpo-tarsal osteolysis with or without nephropathy idiopathic multicentric osteolysis with or without nephropathy

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:436237 (MONDO:equivalentTo)
  • UMLS:C2674705 (MONDO:equivalentTo)
  • OMIM:166300 (Orphanet:2774/e)
  • MESH:C567171 (MONDO:equivalentTo)
  • GARD:3818 (MONDO:GARD)
  • DOID:0111534 (MONDO:equivalentTo)
  • Orphanet:2774 (OMIM:166300)
  • SCTID:766992008 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_included, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, ordo_malformation_syndrome, harrisons_view_hereditary_disease, harrisons_view_musculoskeletal_system_disorder, orphanet_rare

abbreviation
MCTO [ MONDO:Lexical ]

exactMatch

http://identifiers.org/snomedct/766992008

http://identifiers.org/medgen/436237

http://linkedlifedata.com/resource/umls/id/C2674705

http://www.orpha.net/ORDO/Orphanet_2774

http://identifiers.org/mesh/C567171

https://omim.org/entry/166300

http://purl.obolibrary.org/obo/DOID_0111534

has related synonym

Carnevale canun Mendoza syndrome

MCTO

multicentric osteolysis, autosomal dominant

multicentric carpotarsal osteolysis syndrome

osteolysis, hereditary, of carpal bones with or without nephropathy

multicentric osteolysis nephropathy

id

MONDO:0008152

seeAlso

https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy

term tracker item

https://github.com/monarch-initiative/mondo/issues/4948