spondyloepimetaphyseal dysplasia with joint laxity

Go to external page http://purl.obolibrary.org/obo/DOID_0112197


A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://pubmed.ncbi.nlm.nih.gov/30358852/ ]

Synonyms: SEMDJL

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:93359
  • GARD:4982
  • MIM:PS271640
  • MESH:C562968
Subsets

DO_rare_slim

acronym
SEMDJL

has obo namespace

disease_ontology

id

DOID:0112197