Preferred Label : Upington disease;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Perthes-like hip disease, enchondromata, and ecchondromata;
Description : In 5 sibships and 3 generations of a family originating from Upington district of
the Cape Province, South Africa, Schweitzer et al. (1971) described a new 'dyschondroplasia'
in which father-son transmission was noted. The features were Perthes-like hip changes,
enchondromata and ecchondromata. Some similarities to Ollier disease and Maffucci
disease were noted. The latter two conditions are, however, not mendelian. *FIELD*
RF 1. Schweitzer, G.; Jones, B.; Timme, H.: Upington disease: a familial dyschondroplasia.
S. Afr. Med. J. 45: 994-1000, 1971. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : %191520;
Origin ID : 191520;
UMLS CUI : C1860596;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
