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woolly hair, autosomal recessive 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene.
Uniprot Description A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111574
OMIM:616760
UMLS:C4225214
MONDO:0014765
High level summary of knowledge for a disease, including descriptions and datasource references.