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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02765 | Alpha-2-HS-glycoprotein |
- 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 |
