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Ehlers-Danlos syndrome spondylodysplastic type 1
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080738
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 42991 | beta4GalT7 | beta-4-galactosyltransferase 7 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 495369 | b4galt7.S | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 S homeolog | Xenopus laevis (African clawed frog) | |
| 100144979 | b4galt7 | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 | Xenopus tropicalis (tropical clawed frog) | |
| 108710989 | b4galt7.L | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000286 | Epicanthus |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000987 | Atypical scarring of skin |
| HP:0007469 | Palmoplantar cutis gyrata |
| HP:0001252 | Hypotonia |
| HP:0000938 | Osteopenia |
| HP:0001999 | Abnormal facial shape |
| HP:0010511 | Long toe |
| HP:0001075 | Atrophic scars |
| HP:0005328 | Progeroid facial appearance |
