Dermatopathia pigmentosa reticularis

Preferred Label : Dermatopathia pigmentosa reticularis;

Symbol : DPR;

CISMeF acronym : DPR;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin-14 gene (KRT14, 148066.0016);

Prefixed ID : #125595;

Details

Origin ID

125595;

UMLS CUI

C0406778;

Automatic exact mappings (from CISMeF team)
- dermatopathia pigmentosa reticularis [DO Concept]
Currated CISMeF NLP mapping
- Dermatopathia pigmentosa reticularis [MeSH concept]
- Dermatopathia pigmentosa reticularis [ORDO Disease]
- Dermatopathia pigmentosa reticularis (disorder) [SNOMED CT concept]
- dermatopathia pigmentosa reticularis [Disease (Nov.)]
- dermatopathia pigmentosa reticularis [MeSH Supplementary Concept]
DO Cross reference
- dermatopathia pigmentosa reticularis [DO Concept]
Genes related to phenotype
- Keratin 14, type I [OMIM gene]
HPO term(s)
- Abnormal conjunctiva morphology [HPO term]
- Adermatoglyphia [HPO term]
- Alopecia of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypohidrosis [HPO term]
- Hypohidrosis or hyperhidrosis [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Reticular hyperpigmentation [HPO term]
- Reticulate pigmentation of oral mucosa [HPO term]
ORDO concept(s)
- Dermatopathia pigmentosa reticularis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dermatopathia pigmentosa reticularis [ORDO Disease]
- Dermatopathia pigmentosa reticularis [MeSH concept]
- Dermatopathia pigmentosa reticularis (disorder) [SNOMED CT concept]
- dermatopathia pigmentosa reticularis [MeSH Supplementary Concept]
- dermatopathia pigmentosa reticularis [Disease (Nov.)]
- dermatopathia pigmentosa reticularis [DO Concept]

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