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Adams-Oliver syndrome
Summary
- Synonym
-
- Adams Oliver syndrome
- Definition
- A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060227
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 443983 | eogt.L | EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase L homeolog | Xenopus laevis (African clawed frog) | |
| 780148 | eogt | EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase | Xenopus tropicalis (tropical clawed frog) |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008065 | Aplasia/Hypoplasia of the skin |
| HP:0008070 | Sparse hair |
| HP:0009882 | Short distal phalanx of finger |
| HP:0010624 | Aplastic/hypoplastic toenail |
| HP:0010760 | Absent toe |
| HP:0100026 | Arteriovenous malformation |
| HP:0001643 | Patent ductus arteriosus |
| HP:0010645 | Aplasia of the distal phalanges of the toes |
| HP:0001831 | Short toe |
| HP:0100382 | Aplasia of the middle phalanx of the 4th toe |
