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spondyloepimetaphyseal dysplasia, Pakistani type

Go to external page http://purl.obolibrary.org/obo/DOID_0050812


A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

spondyloepimetaphyseal dysplasia, Pakistani type

Synonyms
  • spondyloepimetaphyseal dysplasia Pakistani type
database cross reference
created by

lschriml

creation date

2013-12-04T01:24:55Z

has obo namespace

disease_ontology

id

DOID:0050812