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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Unusual CNS infection (HP:0011450)

..Starting node
..Brain abscess (HP:0030049)

Term ID:

30049

Name:

Brain abscess

Synonym:

Brain abscess

Definition:

A collection of pus, immune cells, and other material in the brain.

Comments:

Reference:

HP:0030049

Genes and Diseases:

Child Nodes:

Sister Nodes:

Infectious encephalitis (HP:0002383)

Meningitis (HP:0001287)

Recurrent meningitis (HP:0006946)

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:0030049	HP:0030049	Brain abscess	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030049	HP:0030049	Brain abscess	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186

Genes (2) :ACVRL1 ENG

Diseases (2) :OMIM:600376 OMIM:187300

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