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
External Links
Disease Ontology
DOID:0050812
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 14 in total
HPO ID HPO Term
HP:0002751 Kyphoscoliosis
HP:0001007 Hirsutism
HP:0004626 Lumbar scoliosis
HP:0000869 Secondary amenorrhea
HP:0003301 Irregular vertebral endplates
HP:0012411 Premature pubarche
HP:0001156 Brachydactyly
HP:0000007 Autosomal recessive inheritance
HP:0002651 Spondyloepimetaphyseal dysplasia
HP:0004322 Short stature
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: August 19, 2024