Hypercholesterolemia, Familial, 4

Preferred Label : Hypercholesterolemia, Familial, 4;

NCIt synonyms : Autosomal Recessive Hypercholesterolemia; FCHL4;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.;

Details

Origin ID

C128114;

UMLS CUI

C1863512;

Automatic exact mappings (from CISMeF team)
- Autosomal Recessive Hypercholesterolemia [MeSH concept]
- low density lipoprotein receptor adaptor protein 1 [HGNC gene]
- low density lipoprotein receptor adaptor protein 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Homozygous Familial Hypercholesterolemia [MeSH Descriptor]
- Hypercholesterolemia, familial, 4 [OMIM Phenotype]
- autosomal recessive hypercholesterolemia [DO Concept]
- hypercholesterolemia, autosomal recessive [MeSH concept]
- hypercholesterolemia, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hypercholesterolaemia [MedDRA LLT]
- Autosomal recessive hypercholesterolemia [MedDRA LLT]
- Hypercholesterolemia, familial, 4 [OMIM Phenotype]
- autosomal recessive hypercholesterolemia [DO Concept]
- hypercholesterolemia, autosomal recessive [MeSH Supplementary Concept]
- hypercholesterolemia, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- LDLRAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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