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geroderma osteodysplasticum
Summary
- Synonym
-
- GO
- Walt Disney dwarfism
- geroderma osteodysplastica
- gerodermia osteodysplastica
- Definition
- A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111266
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O94766 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
