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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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3516 | RBPJ | recombination signal binding protein for immunoglobulin kappa J region | |
| 4851 | NOTCH1 | notch receptor 1 | |
| 54567 | DLL4 | delta like canonical Notch ligand 4 | |
| 57514 | ARHGAP31 | Rho GTPase activating protein 31 | |
| 57572 | DOCK6 | dedicator of cytokinesis 6 | |
| 285203 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9JI71 | Delta-like protein 4 |
- 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:0000007 | Autosomal recessive inheritance |
| HP:0001537 | Umbilical hernia |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
