spondyloepimetaphyseal dysplasia Pakistani type
GPTKB entity
Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:firstDescribed |
2001
|
| gptkbp:hasGeneticCause |
mutation in PAPSS2 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
spondyloepimetaphyseal dysplasia Pakistani type
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Pakistani population
|
| gptkbp:OMIM |
603005
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
short stature
epiphyseal and metaphyseal dysplasia spinal abnormalities |
| gptkbp:bfsParent |
gptkb:PAPSS2
|
| gptkbp:bfsLayer |
7
|