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Metadata
ID DOID:0111342
Name dermatopathia pigmentosa reticularis
Definition An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.
https://www.ncbi.nlm.nih.gov/pubmed/1303619, https://www.ncbi.nlm.nih.gov/pubmed/16960809
Xrefs

GARD:8550

MESH:C535374

OMIM:125595

ORDO:86920

SNOMEDCT_US_2023_03_01:239088003

UMLS_CUI:C0406778

Subsets

DO_rare_slim

Synonyms

DPR [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal dominant disease

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