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 ]
Synonyms: spondylometaphyseal dysplasia
Term information
- OMIMPS:184255 (MONDO:equivalentTo)
- GARD:18685 (Orphanet:254)
- Orphanet:254 (MONDO:equivalentTo)
- DOID:0112295 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders
http://purl.obolibrary.org/obo/DOID_0112295
https://omim.org/phenotypicSeries/PS184255
http://www.orpha.net/ORDO/Orphanet_254