JSON

spondylometaphyseal dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0016763


Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. [ Orphanet:254 ]

Term info

database cross reference
  • OMIMPS:184255 (MONDO:equivalentTo)
  • DOID:0112295 (MONDO:equivalentTo)
  • Orphanet:254 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

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

definition

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.

exactMatch

http://purl.obolibrary.org/obo/DOID_0112295, https://omim.org/phenotypicSeries/PS184255, http://purl.obolibrary.org/obo/Orphanet_254

excluded subClassOf

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

has exact synonym

spondylometaphyseal dysplasia

id

MONDO:0016763

Term relations

Subclass of: