OBO ID: DOID:0050812
Term Name: spondyloepimetaphyseal dysplasia, Pakistani type Search Ontology:
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)
OTHER spondyloepimetaphyseal dysplasia, Pakistani type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None