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 mitochondrial morphology (HP:0008322)

Parent Node:
Abnormal mitochondrial number (HP:0012102)

..Starting node
..Decreased mitochondrial number (HP:0040013)

Term ID:

40013

Name:

Decreased mitochondrial number

Synonym:

Definition:

Comments:

Reference:

HP:0040013

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased mitochondrial number (HP:0040014)

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:0040013	HP:0040013	Decreased mitochondrial number	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0040013	HP:0040013	Decreased mitochondrial number	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11

Genes (2) :DNA2 MGME1

Diseases (2) :ORPHA:352470 ORPHA:352447

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