Search Ontology:
Human Disease

spondyloepimetaphyseal dysplasia, Pakistani type

Term ID
DOID:0050812
Synonyms
  • spondyloepimetaphyseal dysplasia Pakistani type
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. (2)
References
Ontology
Human Disease   ( DOID:0050812 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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