ulna metaphyseal dysplasia syndrome
http://purl.obolibrary.org/obo/MONDO_0008619
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. [ Orphanet:1837 ]
Term info
- UMLS:C1860615 (Orphanet:1837/e)
- GARD:0004740 (MONDO:equivalentTo)
- MESH:C536935 (Orphanet:1837/e)
- Orphanet:1837 (OMIM:191420)
- OMIM:191420 (Orphanet:1837/e)
- SCTID:715242008 (MONDO:equivalentTo)
gard_rare, ordo_disease
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
http://identifiers.org/mesh/C536935, https://omim.org/entry/191420, http://purl.obolibrary.org/obo/Orphanet_1837, http://linkedlifedata.com/resource/umls/id/C1860615, http://identifiers.org/snomedct/715242008
ulna metaphyseal dysplasia syndrome, Rosenberg-Lohr syndrome
hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna, metaphyseal chondrodysplasia, Rosenberg type, metaphyseal chondroplasia Rosenberg type, Rosenberg Lohr syndrome
MONDO:0008619
https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome