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:
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)

Parent Node:
Mitochondrial myopathy (HP:0003737)

..Starting node
..Lethal infantile mitochondrial myopathy (HP:0009069)

Term ID:

9069

Name:

Lethal infantile mitochondrial myopathy

Synonym:

Definition:

Comments:

Reference:

HP:0009069

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009069	HP:0009069	Lethal infantile mitochondrial myopathy	0	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile	.

Genes (1) :TRNT

Diseases (1) :OMIM:551000

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