Human Phenotype Ontology

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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

Grandparent Node:
Abnormal circulating lipid concentration (HP:0003119)

Parent Node:
Abnormal circulating cholesterol concentration (HP:0003107)

..Starting node
..Elevated 7-dehydrocholesterol (HP:0010569)

Term ID:

10569

Name:

Elevated 7-dehydrocholesterol

Synonym:

Elevated levels of cholesta-5,7-dien-3beta-ol

Definition:

Elevated 7-dehydrocholesterol levels.

Comments:

Reference:

HP:0010569

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Elevated 8(9)-cholestenol (HP:0003465)

Elevated 8-dehydrocholesterol (HP:0003462)

Elevated cholesterol ester level (HP:0031211)

Hypercholesterolemia (HP:0003124)

Hypocholesterolemia (HP:0003146)

Low cholesterol esterification rate (HP:0003349)

obsolete Abnormal cholesterol homeostasis (HP:0003464)

obsolete Increased cholesterol esters (HP:0500010)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010569	HP:0010569	Elevated 7-dehydrocholesterol	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0010569	HP:0010569	Elevated 7-dehydrocholesterol	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159

Genes (1) :DHCR7

Diseases (2) :ORPHA:818 OMIM:270400

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.