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:
Encephalopathy (HP:0001298)

Parent Node:
Nonprogressive encephalopathy (HP:0007030)

..Starting node
..Profound static encephalopathy (HP:0007069)

Term ID:

7069

Name:

Profound static encephalopathy

Synonym:

Definition:

Comments:

Reference:

HP:0007069

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007069	HP:0007069	Profound static encephalopathy	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0007069	HP:0007069	Profound static encephalopathy	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23

Genes (2) :PNPT1 UNC80

Diseases (2) :ORPHA:319514 OMIM:616801

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