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alopecia-mental retardation syndrome 1
Summary
- Definition
- An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27.
- Super Class
- alopecia-mental retardation syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080628
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001596 | Alopecia |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0002650 | Scoliosis |
| HP:0001250 | Seizure |
| HP:0004322 | Short stature |
| HP:0001171 | Split hand |
| HP:0002231 | Sparse body hair |
| HP:0000400 | Macrotia |
| HP:0001371 | Flexion contracture |
| HP:0008064 | Ichthyosis |
