spondyloepimetaphyseal dysplasia, Pakistani type
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
spondyloepimetaphyseal dysplasia, Pakistani type
- spondyloepimetaphyseal dysplasia Pakistani type
lschriml
2013-12-04T01:24:55Z
disease_ontology
DOID:0050812