Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
autosomal recessive woolly hair 3
Summary
- Synonym
-
- ARWH3
- Definition
- A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2.
- Super Class
- autosomal recessive disease familial woolly hair syndrome
External Links
- Disease Ontology
- DOID:0111574
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z3Z0 | Keratin, type I cytoskeletal 25 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002231 | Sparse body hair |
| HP:0000615 | Abnormal pupil morphology |
| HP:0010719 | Abnormality of hair texture |
| HP:0000486 | Strabismus |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0002217 | Slow-growing hair |
| HP:0000479 | Abnormal retinal morphology |
| HP:0002299 | Brittle hair |
| HP:0002213 | Fine hair |
| HP:0005599 | Hypopigmentation of hair |
