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Hypercholesterolemia, Familial, 1 (MONDO:0007750)

Overview

Category

Unknown

Ontology ID

Internal:9100

Synonyms

FHCL1

LDL cholesterol level QTL2

LDL receptor disorder

hypercholesterolemia, familial

hypercholesterolemia, familial, 1

hypercholesterolemia, familial, due to ldlr defect, modifier of

hypercholesterolemia, familial, modifier of

hypercholesterolemic xanthomatosis, familial

hyperlipoproteinemia, type 2

hyperlipoproteinemia, type 2A

FHC

hyper-low-density-lipoproteinemia

hypercholesterolemia, susceptibility to

low density lipoprotein cholesterol level quantitative trait locus 2

Mapped terms

GARD:0024574

MEDGEN:152875

NANDO:2200602

OMIM:143890

SCTID:398036000

UMLS:C0745103

Child terms

Unknown children.

Clinical-Coded Phenotype

Disease or syndrome

Coding Systems:

Collections:

Ontology terms:

Last updated 2021-10-27 Kuan V,Denaxas S,Gonzalez-Izquierdo A,Direk K,Bhatti O,Husain …