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ectodermal dysplasia 7, hair/nail type
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.
Uniprot Description A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.
Mondo Term and Equivalent IDs
MONDO:0013975: ectodermal dysplasia 7, hair/nail type
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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:0111660
OMIM:614929
UMLS:C3554117
MONDO:0013975
High level summary of knowledge for a disease, including descriptions and datasource references.