autosomal recessive hypercholesterolemia
(Q30988959)
familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36
familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36
Language:
Current Data About
autosomal recessive hypercholesterolemia
| (P31) |
(Q929833)
(Q112193867) |
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| (P279) |
(Q2711291)
(Q200779)
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| (P1199) |
(Q15729064)
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| (P1748) |
C128114
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| (P2293) |
(Q18038122)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0090105
http://identifiers.org/doid/DOID:0090105
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| (P5008) |
(Q4099686)
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other details
| aliases |
ARH1 familial autosomal recessive hypercholesterolemia autosomal recessive hypercholesterolemia 2 autosomal recessive hypercholesterolemia 1 FHCB2 FHCB1 ARH2 ARH HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE Fhcb2, Formerly Hypercholesterolemia, Autosomal Recessive, 1, Formerly Fhcb1, Formerly Hypercholesterolemia, Autosomal Recessive, 1 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH Hypercholesterolemia, Autosomal Recessive, 2, Formerly Hypercholesterolemia, Autosomal Recessive, 2 |
| description | familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36 |
External Links
| (P486) |
C566331
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| (P492) |
603813
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| (P665) |
H01918
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| (P699) |
DOID:0090105
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| (P1550) |
391665
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| (P2892) |
C1863512
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| (P4229) |
E78.0
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| (P5270) |
MONDO_0011374
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| (P7807) |
1914003580
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