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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alopecia-mental retardation syndrome 4
Summary
- Definition
- An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
- Super Class
- alopecia-mental retardation syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080950
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001156 | Brachydactyly |
| HP:0002209 | Sparse scalp hair |
| HP:0000252 | Microcephaly |
| HP:0002650 | Scoliosis |
| HP:0001250 | Seizure |
| HP:0008064 | Ichthyosis |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001596 | Alopecia |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0001171 | Split hand |
