autosomal recessive hypercholesterolemia
familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36
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autosomal recessive hypercholesterolemia
Summary
autosomal recessive hypercholesterolemia is a rare disease[1]. It is known by 18 alternative names across languages and contexts.[2]
Key Facts
- autosomal recessive hypercholesterolemia's instance of is recorded as rare disease[3].
- autosomal recessive hypercholesterolemia's instance of is recorded as class of disease[4].
- autosomal recessive hypercholesterolemia is a type of familial hypercholesterolemia[5].
- autosomal recessive hypercholesterolemia is a type of genetic disease[6].
- autosomal recessive hypercholesterolemia's mode of inheritance is recorded as autosomal recessive[7].
- autosomal recessive hypercholesterolemia's NCI Thesaurus ID is recorded as C128114[8].
- autosomal recessive hypercholesterolemia's genetic association is recorded as LDLRAP1[9].
- autosomal recessive hypercholesterolemia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090105[10].
- autosomal recessive hypercholesterolemia's exact match is recorded as http://identifiers.org/doid/DOID:0090105[11].
- autosomal recessive hypercholesterolemia's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
Why It Matters
autosomal recessive hypercholesterolemia is known by 18 alternative names across languages and contexts.[2]