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pseudoachondroplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0008322

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. [ Orphanet:750 ]

Synonyms: pseudoachondroplasia spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC Pseudoachondroplastic dysplasia pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080047 (MONDO:equivalentTo)
  • OMIM:177170 (Orphanet:750/e)
  • MESH:C535819 (Orphanet:750/e)
  • Orphanet:750 (OMIM:177170)
  • NORD:1625 (MONDO:NORD)
  • ICD9:756.9 (MONDO:relatedTo)
  • UMLS:C0410538 (Orphanet:750/e)
  • NCIT:C118635 (MONDO:equivalentTo)
  • GARD:4540 (Orphanet:750)
  • SCTID:22567005 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_750

https://omim.org/entry/177170

http://linkedlifedata.com/resource/umls/id/C0410538

http://identifiers.org/snomedct/22567005

http://identifiers.org/mesh/C535819

http://purl.obolibrary.org/obo/DOID_0080047

http://purl.obolibrary.org/obo/NCIT_C118635

has related synonym

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

spondyloepiphyseal dysplasia, Pseudoachondroplastic

PSACH

id

MONDO:0008322

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008322

https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia

Term relations