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
..Acute encephalopathy (HP:0006846)

Term ID:

6846

Name:

Acute encephalopathy

Synonym:

Definition:

Comments:

Reference:

HP:0006846

Genes and Diseases:

Child Nodes:

........

Acute necrotizing encephalopathy (HP:0006965)

Sister Nodes:

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)

Progressive encephalopathy (HP:0002448)

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:0006846	HP:0006846	Acute encephalopathy	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	153	177	104620
HP:0006846	HP:0006846	Acute encephalopathy	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	1189	8653	232000
HP:0006846	HP:0006846	Acute encephalopathy	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	971	8654	232050
HP:0006846	HP:0006846	Acute encephalopathy	0	RANBP2 CL E G H	5903	88619				ORPHA	1	1372	9848	601181
HP:0006846	HP:0006846	Acute encephalopathy	0	SLC22A5 CL E G H	6584	158				ORPHA	1	1027	10969	603377
HP:0006846	HP:0006846	Acute encephalopathy	0	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HP:0006846	HP:0006965	Acute necrotizing encephalopathy	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	153	177	104620
HP:0006846	HP:0006965	Acute necrotizing encephalopathy	1	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	1189	8653	232000
HP:0006846	HP:0006965	Acute necrotizing encephalopathy	1	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	971	8654	232050
HP:0006846	HP:0006965	Acute necrotizing encephalopathy	1	RANBP2 CL E G H	5903	88619				ORPHA	1	1372	9848	601181
HP:0006846	HP:0006965	Acute necrotizing encephalopathy	1	SLC22A5 CL E G H	6584	158				ORPHA	1	1027	10969	603377
HP:0006846	HP:0006965	Acute necrotizing encephalopathy	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :ACY1 NDUFS4 PCCA PCCB RANBP2 SLC22A5 SLC25A15

Diseases (6) :609924 606054 88619 158 238970 252010

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

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