Amyloidosis, primary localized cutaneous, 3

Preferred Label : Amyloidosis, primary localized cutaneous, 3;

Symbol : PLCA3;

CISMeF acronym : ACD; PLCA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ACD; Amyloidosis cutis dyschromica;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycoprotein NMB gene (GPNMB, 604368.0001);

Prefixed ID : #617920;

Détails

Origin ID

617920;

UMLS CUI

C4554421;

Automatic exact mappings (from CISMeF team)
- ACD Gene [NCIt concept]
- ACD shelterin complex subunit and telomerase recruitment factor [ORDO Gene]
- Acid-Citrate-Dextrose [NCIt concept]
- Adrenocortical Dysplasia Protein Homolog [NCIt concept]
- Adult form of celiac disease (disorder) [SNOMED CT concept]
- Advisory Committee to the Director, NCI [NCIt concept]
- Before Lunch [NCIt concept]
- Coeliac disease [ICD-11 Category]
- Congenital dyserythropoietic anemia (disorder) [SNOMED CT concept]
- Right coronary artery [FMA entity]
- alopecia contractures dwarfism mental retardation [MeSH Supplementary Concept]
- diabetic ketoacidosis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Amyloidosis cutis dyschromia [ORDO Disease]
- Amyloidosis cutis dyschromia (disorder) [SNOMED CT concept]
False automatic mappings
- Dacarbazine (substance) [SNOMED CT concept]
- dactinomycin [MeSH Descriptor]
Genes related to phenotype
- Glycoprotein nmb [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dry skin [HPO term]
- Hypermelanotic macule [HPO term]
- Pruritus [HPO term]
ORDO concept(s)
- Amyloidosis cutis dyschromia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyloidosis cutis dyschromia [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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