Keratosis pilaris atrophicans

Preferred Label : Keratosis pilaris atrophicans;

Symbol : KPA;

CISMeF acronym : KPA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein-1 gene (LRP1, 107770.0002);

Prefixed ID : #604093;

Details

Origin ID

604093;

UMLS CUI

C0263428;

Automatic exact mappings (from CISMeF team)
- Keratosis pilaris atrophicans [ORDO Disease]
- Keratosis pilaris atrophicans [ICD-11 More detail]
- Keratosis pilaris atrophicans [MedDRA Preferred Term]
- Keratosis pilaris atrophicans (disorder) [SNOMED CT concept]
- Kilopascal [NCIt concept]
- Kilopascal (qualifier value) [SNOMED CT concept]
- Liter/kilopascal (qualifier value) [SNOMED CT concept]
- Liter/second/kilopascal (qualifier value) [SNOMED CT concept]
- Ulerythema ophryogenesis [ORDO Disease]
- burnett schwartz berberian syndrome [MeSH Supplementary Concept]
- keratosis pilaris atrophicans [DO Concept]
Currated CISMeF NLP mapping
- Keratosis Pilaris [NCIt concept]
- Keratosis pilaris [HPO term]
- Keratosis pilaris [ICD-11 Category]
- Keratosis pilaris [MedDRA Preferred Term]
- Keratosis pilaris (disorder) [SNOMED CT concept]
- Pilaris keratosis [PASCAL descriptor]
- keratosis pilaris [MeSH concept]
- keratosis pilaris [SNOMED Notion]
DO Cross reference
- keratosis pilaris atrophicans [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 1 [OMIM gene]
HPO term(s)
- Abnormal perifollicular morphology [HPO term]
- Absent eyelashes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Comedo [HPO term]
- Epiphora [HPO term]
- Erythema [HPO term]
- Keratosis pilaris [HPO term]
- Papule [HPO term]
- Sparse eyebrow [HPO term]
- Sunken cheeks [HPO term]
Not associated HPO term(s)
- Abnormality of vision [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Atrophoderma vermiculata [ORDO Disease]
- Keratosis follicularis spinulosa decalvans [ORDO Disease]
- Ulerythema ophryogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrophodermia vermiculata [HPO term]
- Keratosis pilaris atrophicans [ORDO Disease]
- Keratosis pilaris atrophicans [MedDRA Preferred Term]
- Keratosis pilaris atrophicans (disorder) [SNOMED CT concept]
- Ulerythema ophryogenes (disorder) [SNOMED CT concept]
- burnett schwartz berberian syndrome [MeSH concept]
- burnett schwartz berberian syndrome [MeSH Supplementary Concept]
- ulerythema of eyebrows [SNOMED Notion]

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