JSON

spondylometaphyseal dysplasia

Go to external page 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 ]

Synonyms: spondylometaphyseal dysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:18685 (MONDO:GARD)
  • Orphanet:254 (MONDO:equivalentTo)
  • DOID:0112295 (MONDO:equivalentTo)
  • UMLS:C4759767 (MONDO:equivalentTo)
  • MEDGEN:1674850 (MONDO:equivalentTo)
  • icd11.foundation:181781948 (https://orcid.org/0000-0001-5208-3432)
  • OMIMPS:184255 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, clingen, ordo_group_of_disorders

ClinGen label
spondylometaphyseal dysplasia

exactMatch

http://purl.obolibrary.org/obo/DOID_0112295

http://identifiers.org/medgen/1674850

http://linkedlifedata.com/resource/umls/id/C4759767

https://omim.org/phenotypicSeries/PS184255

http://www.orpha.net/ORDO/Orphanet_254

excluded subClassOf

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

id

MONDO:0016763

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

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

Term relations

Subclass of: