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
..Infantile encephalopathy (HP:0007105)

Term ID:

7105

Name:

Infantile encephalopathy

Synonym:

Definition:

Encephalopathy with onset in the infantile period.

Comments:

Reference:

HP:0007105

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)

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:0007105	HP:0007105	Infantile encephalopathy	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	838	25523	609736
HP:0007105	HP:0007105	Infantile encephalopathy	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	468	28358	609186
HP:0007105	HP:0007105	Infantile encephalopathy	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	720	4189	608801
HP:0007105	HP:0007105	Infantile encephalopathy	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0007105	HP:0007105	Infantile encephalopathy	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0007105	HP:0007105	Infantile encephalopathy	0	TSEN54 CL E G H	283989	225753	Pontocerebellar hypoplasia type 4	225753	C1856974	OMIM	1	414	27561	608755
HP:0007105	HP:0007105	Infantile encephalopathy	0	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	136	12309	604500
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :CCDC88A D2HGDH GCDH STXBP1 TK2 TSEN54 ZNHIT3

Diseases (7) :617507 600721 231670 612164 254875 225753 260565

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