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hypercholesterolemia, familial, 4

Go to external page http://purl.obolibrary.org/obo/MONDO_0011374

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. [ NCIT:C128114 ]

Synonyms: hypercholesterolemia, familial, 4 familial autosomal recessive hypercholesterolemia ARH

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C566331 (MONDO:equivalentTo)
  • DOID:0090105 (MONDO:equivalentTo)
  • OMIM:603813 (MONDO:equivalentTo)
  • NCIT:C128114 (MONDO:equivalentTo)
  • UMLS:C1863512 (OMIM:603813)
  • GARD:18614 (OMIM:603813)
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://identifiers.org/mesh/C566331

http://linkedlifedata.com/resource/umls/id/C1863512

https://omim.org/entry/603813

http://purl.obolibrary.org/obo/DOID_0090105

http://purl.obolibrary.org/obo/NCIT_C128114

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018328

has narrow synonym

autosomal recessive hypercholesterolemia 1

autosomal recessive hypercholesterolemia 2

ARH1

ARH2

has related synonym

hypercholesterolemia, autosomal recessive

FHCB2, formerly

hypercholesterolemia, autosomal recessive, 2, formerly

hypercholesterolemia, autosomal recessive, 1, formerly

hypercholesterolemia, autosomal recessive, 2

FHCB1, formerly

FHCB1

FHCB2

hypercholesterolemia, autosomal recessive, 1

id

MONDO:0011374

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011374