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 nervous system physiology (HP:0012638)

Parent Node:
Encephalopathy (HP:0001298)

..Starting node
..Nonprogressive encephalopathy (HP:0007030)

Term ID:

7030

Name:

Nonprogressive encephalopathy

Synonym:

Definition:

Comments:

Reference:

HP:0007030

Genes and Diseases:

Child Nodes:

........

Profound static encephalopathy (HP:0007069)

Sister Nodes:

Acute encephalopathy (HP:0006846)

Congenital encephalopathy (HP:0007239)

Epileptic encephalopathy (HP:0200134)

Hepatic encephalopathy (HP:0002480)

Hypoglycemic encephalopathy (HP:0006929)

Infantile encephalopathy (HP:0007105)

Mitochondrial encephalopathy (HP:0006789)

Necrotizing encephalopathy (HP:0006976)

Progressive encephalopathy (HP:0002448)

Recurrent encephalopathy (HP:0007335)

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:0007030	HP:0007030	Nonprogressive encephalopathy	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0007030	HP:0007030	Nonprogressive encephalopathy	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0007030	HP:0007030	Nonprogressive encephalopathy	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0007030	HP:0007030	Nonprogressive encephalopathy	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0007030	HP:0007069	Profound static encephalopathy	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0007030	HP:0007069	Profound static encephalopathy	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23

Genes (4) :FBLN1 HSD17B10 PNPT1 UNC80

Diseases (4) :ORPHA:404451 ORPHA:391428 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.