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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95340 | Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
- The Human Phenotype Ontology
| 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 |
