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Upington disease

^ http://purl.obolibrary.org/obo/MONDO_0008624

Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. [ Orphanet:3408 ]

Term info

database cross reference
  • Orphanet:3408 (OMIM:191520)
  • UMLS:C1860596 (Orphanet:3408/e)
  • MESH:C536472 (Orphanet:3408/e)
  • GARD:0005421 (MONDO:equivalentTo)
  • SCTID:719041000 (MONDO:equivalentTo)
  • OMIM:191520 (Orphanet:3408/e)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1860596, https://omim.org/entry/191520, http://identifiers.org/mesh/C536472, http://purl.obolibrary.org/obo/Orphanet_3408, http://identifiers.org/snomedct/719041000

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019708

has exact synonym

Upington disease, hip dysplasia-enchondromata-ecchondroma syndrome

has related synonym

familial dyschondroplasia, Perthes-like hip disease, enchondromata, and Ecchondromata

id

MONDO:0008624

seeAlso

https://rarediseases.info.nih.gov/diseases/5421/upington-disease