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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alacrima, achalasia, and impaired intellectual development syndrome
Summary
- Synonym
-
- AAMR
- alacrima, achalasia, and mental retardation syndrome
- Definition
- A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation
External Links
- Disease Ontology
- DOID:0112321
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000648 | Optic atrophy |
| HP:0001430 | Abnormal calf musculature morphology |
| HP:0009890 | High anterior hairline |
| HP:0000522 | Alacrima |
| HP:0002015 | Dysphagia |
| HP:0000365 | Hearing impairment |
| HP:0001278 | Orthostatic hypotension |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0000322 | Short philtrum |
| HP:0000486 | Strabismus |
