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MIRAGE
spondyloepimetaphyseal dysplasia, Pakistani type

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease spondyloepimetaphyseal dysplasia
Disease Ontology
DOID:0050812
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
The Human Phenotype Ontology
Displaying entries 11 - 14 of 14 in total
HPO ID HPO Term
HP:0000926 Platyspondyly
HP:0009816 Lower limb undergrowth
HP:0001061 Acne
HP:0002979 Bowing of the legs
Displaying 1 entry
Gene ID Gene Symbol Description
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025