spondyloepimetaphyseal dysplasia, Pakistani type

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: papss2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type

MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type

MIM:

MIM:612847 - BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4

MIM:612847 - BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), spondyloepimetaphyseal dysplasia (is_a)