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:
Abnormality of the mitochondrion (HP:0012103)

Parent Node:
Abnormality of mitochondrial metabolism (HP:0003287)

..Starting node
..Deficiency or absence of cytochrome b(-245) (HP:0003514)

Term ID:

3514

Name:

Deficiency or absence of cytochrome b(-245)

Synonym:

Deficiency or absence of cytochrome b

Definition:

Comments:

Reference:

HP:0003514

Genes and Diseases:

Child Nodes:

Sister Nodes:

3-Methylglutaconic aciduria (HP:0003535)

Abnormal activity of mitochondrial respiratory chain (HP:0011922)

Abnormal iron deposition in mitochondria (HP:0008306)

Abnormal mitochondria in muscle tissue (HP:0008316)

Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)

Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)

Decreased plasma carnitine (HP:0003234)

Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647)

Mitochondrial depletion (HP:0030059)

Mitochondrial lysine transport defect (HP:0008265)

Mitochondrial malic enzyme reduced (HP:0003232)

Mitochondrial propionyl-CoA carboxylase defect (HP:0003288)

Mitochondrial respiratory chain defects (HP:0200125)

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:0003514	HP:0003514	Deficiency or absence of cytochrome b(-245)	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0003514	HP:0003514	Deficiency or absence of cytochrome b(-245)	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111

Genes (2) :CYBA CYBB

Diseases (2) :OMIM:233690 OMIM:306400

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