JSON

Pyle disease

^ http://purl.obolibrary.org/obo/MONDO_0009943

A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. [ https://orcid.org/0000-0001-5208-3432 Orphanet:3005 ]

Term info

database cross reference
  • GARD:0004612 (MONDO:equivalentTo)
  • MESH:C536252 (Orphanet:3005/e)
  • ICD9:758.5 (MONDO:relatedTo)
  • ICD10CM:Q78.5 (Orphanet:3005/ntbt)
  • SCTID:27837003 (MONDO:equivalentTo)
  • Orphanet:3005 (OMIM:265900)
  • DOID:0080019 (MONDO:equivalentTo)
  • OMIM:265900 (Orphanet:3005/e)
Subsets

ordo_disease

IAO 0000233

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

definition

A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_3005, http://identifiers.org/snomedct/27837003, http://purl.obolibrary.org/obo/DOID_0080019, http://identifiers.org/mesh/C536252, http://purl.bioontology.org/ontology/ICD10CM/Q78.5, https://omim.org/entry/265900

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019703

has broad synonym

metaphyseal dysplasia

has exact synonym

Bakwin-Krida syndrome, Pyle disease, Pyle-Cohn syndrome, Pyle's disease, Pyle's syndrome, metaphyseal dysplasia, Pyle type, chondrodysplasia calcificans metaphysealis

has related synonym

Pyl, metaphyseal dysplasia Pyle type

id

MONDO:0009943