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
..Progressive encephalopathy (HP:0002448)

Term ID:

2448

Name:

Progressive encephalopathy

Synonym:

Progressive brain disease

Definition:

Comments:

Reference:

HP:0002448

Genes and Diseases:

Child Nodes:

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)

Nonprogressive encephalopathy (HP:0007030)

Recurrent encephalopathy (HP:0007335)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002448	HP:0002448	Progressive encephalopathy	0	BSCL2 CL E G H	26580	363400				ORPHA	1	510	15832	606158
HP:0002448	HP:0002448	Progressive encephalopathy	0	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	1305	1787	600160
HP:0002448	HP:0002448	Progressive encephalopathy	0	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	3700	16627	604373
HP:0002448	HP:0002448	Progressive encephalopathy	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0002448	HP:0002448	Progressive encephalopathy	0	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	131	6973	164785
HP:0002448	HP:0002448	Progressive encephalopathy	0	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0002448	HP:0002448	Progressive encephalopathy	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0002448	HP:0002448	Progressive encephalopathy	0	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0002448	HP:0002448	Progressive encephalopathy	0	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	1	2977	11998	191170
HP:0002448	HP:0002448	Progressive encephalopathy	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	418	12269	606609
HP:0002448	HP:0002448	Progressive encephalopathy	0	WDR45 CL E G H	11152	329284				ORPHA	1	587	28912	300526
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002448	HP:0002448	Progressive encephalopathy	0	TH CL E G H	7054	101150				ORPHA	0	967	11782	191290

Genes (12) :BSCL2 CDKN2A CHEK2 HTRA1 MDM2 NADK2 SUCLA2 TBCE TH TP53 TREX1 WDR45

Diseases (9) :363400 524 600142 431361 612073 496756 101150 225750 329284

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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