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Echinobase
Summary Literature (0)
DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type

Disease Ontology Definition: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.

Synonyms: spondyloepimetaphyseal dysplasia Pakistani type,

Echinobase Genes :


OMIM:
MIM:612847 - brachyolmia type 4 with mild epiphyseal and metaphyseal changes

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): spondyloepimetaphyseal dysplasia (is_a)