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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Deafness (D003638)
Parent Node: Hyperlipoproteinemias (D006951)
..Starting node ..Hyperlipoproteinemia, Type II, and Deafness (C564170)
Child Nodes:
Sister Nodes:
..Apolipoprotein C-III Deficiency (C566270)
..Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase (C566126)
..HYPERALPHALIPOPROTEINEMIA 1 (OMIM:143470)
..Hypercholesterolemia, Autosomal Dominant, 3 (C566337)
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hyperlipoproteinemia, Type II, and Deafness (C564170)
..Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia (C563617)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5415

Name:

Hyperlipoproteinemia, Type II, and Deafness

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D006951

TreeNumbers:

C09.218.458.341.186/C564170 |C10.597.751.418.341.186/C564170 |C18.452.584.500.500.644/C564170 |C23.888.592.763.393.341.186/C564170

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564170
MeSH: C564170
OMIM: 144300;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000951	Abnormality of the skin
3	HP:0001084	Corneal arcus
4	HP:0000365	Hearing impairment
5	HP:0003124	Hypercholesterolemia
6	HP:0002155	Hypertriglyceridemia
7	HP:0003141	Increased LDL cholesterol concentration
8	HP:0002635	Type IV atherosclerotic lesion

Disease Causing ClinVar Variants