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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
DOID:0111660: 
UMLS:C3554117: