Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 8-dehydrocholesterol (HP:0003462)

Term ID:

3462

Name:

Elevated 8-dehydrocholesterol

Synonym:

Definition:

Comments:

Reference:

HP:0003462

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Elevated 7-dehydrocholesterol (HP:0010569)

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

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:0003462	HP:0003462	Elevated 8-dehydrocholesterol	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0003462	HP:0003462	Elevated 8-dehydrocholesterol	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040281 - Very frequent	51
HP:0003462	HP:0003462	Elevated 8-dehydrocholesterol	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34

Genes (2) :EBP NSDHL

Diseases (3) :OMIM:302960 ORPHA:401973 OMIM:308050

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