Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cerebral vascular morphology (HP:0100659)

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Intracranial hemorrhage (HP:0002170)

..Starting node
..Intraventricular hemorrhage (HP:0030746)

Term ID:

30746

Name:

Intraventricular hemorrhage

Synonym:

Intraventricular haemorrhage

Definition:

Bleeding into the ventricles of the brain.

Comments:

Reference:

HP:0030746

Genes and Diseases:

Child Nodes:

........

Preterm intraventricular hemorrhage (HP:0030747)

................... HP:0030748 Grade I preterm intraventricular hemorrhage
................... HP:0030749 Grade II preterm intraventricular hemorrhage
................... HP:0030750 Grade III preterm intraventricular hemorrhage
................... HP:0030751 Grade IV preterm intraventricular hemorrhage

Sister Nodes:

Cerebellar hemorrhage (HP:0011695)

Cerebral hemorrhage (HP:0001342)

Epidural hemorrhage (HP:0100310)

Subarachnoid hemorrhage (HP:0002138)

Subdural hemorrhage (HP:0100309)

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:0030746	HP:0030746	Intraventricular hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare	303
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0030746	HP:0030746	Intraventricular hemorrhage	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	HP:0040283 - Occasional	2
HP:0030746	HP:0030747	Preterm intraventricular hemorrhage	1	CL E G H
HP:0030746	HP:0030748	Grade I preterm intraventricular hemorrhage	2	CL E G H
HP:0030746	HP:0030751	Grade IV preterm intraventricular hemorrhage	2	CL E G H
HP:0030746	HP:0030750	Grade III preterm intraventricular hemorrhage	2	CL E G H
HP:0030746	HP:0030749	Grade II preterm intraventricular hemorrhage	2	CL E G H

Genes (7) :F8 KANSL1 LMBRD1 NFIA PET100 RNF168 SPARC

Diseases (8) :ORPHA:169805 ORPHA:363958 ORPHA:363965 ORPHA:79284 ORPHA:401986 OMIM:619055 ORPHA:420741 OMIM:616507

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

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