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mesomelic dwarfism, Reinhardt-Pfeiffer type

^ http://purl.obolibrary.org/obo/MONDO_0008618

Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. [ Orphanet:2634 ]

Term info

database cross reference
  • Orphanet:2634 (OMIM:191400)
  • GARD:0003555 (MONDO:equivalentTo)
  • MESH:C537349 (Orphanet:2634/e)
  • UMLS:C1860616 (Orphanet:2634/e)
  • SCTID:715472000 (MONDO:equivalentTo)
  • OMIM:191400 (Orphanet:2634/e)
Subsets

ordo_malformation_syndrome

definition

Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.

exactMatch

http://identifiers.org/mesh/C537349, http://purl.obolibrary.org/obo/Orphanet_2634, https://omim.org/entry/191400, http://linkedlifedata.com/resource/umls/id/C1860616, http://identifiers.org/snomedct/715472000

has exact synonym

Reinhardt-Pfeiffer syndrome, Reinhardt-Pfeiffer mesomelic dysplasia

has related synonym

hypoplasia of ulna and fibula, mesomelic dwarfism of hypoplastic ulna and fibula type, mesomelic dysplasia Reinhardt-Pfeiffer type, ulna and fibula, hypoplasia OF

id

MONDO:0008618

Term relations