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hereditary hypotrichosis with recurrent skin vesicles
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Uniprot Description A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent.
Mondo Term and Equivalent IDs
MONDO:0013136: hereditary hypotrichosis with recurrent skin vesicles
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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.
MESH:C567751
OMIM:613102
Orphanet:217407
SCTID:724350009
UMLS:C2751292
MONDO:0013136
High level summary of knowledge for a disease, including descriptions and datasource references.