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 cerebral vascular morphology (HP:0100659)

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Intracranial hemorrhage (HP:0002170)

..Starting node
..Cerebellar hemorrhage (HP:0011695)

Term ID:

11695

Name:

Cerebellar hemorrhage

Synonym:

Cerebellar haemorrhage

Definition:

Hemorrhage into the parenchyma of the cerebellum.

Comments:

Reference:

HP:0011695

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral hemorrhage (HP:0001342)

Epidural hemorrhage (HP:0100310)

Intraventricular hemorrhage (HP:0030746)

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:0011695	HP:0011695	Cerebellar hemorrhage	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional	98
HP:0011695	HP:0011695	Cerebellar hemorrhage	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0011695	HP:0011695	Cerebellar hemorrhage	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	HP:0040283 - Occasional	105
HP:0011695	HP:0011695	Cerebellar hemorrhage	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	HP:0040283 - Occasional
HP:0011695	HP:0011695	Cerebellar hemorrhage	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	HP:0040283 - Occasional	96
HP:0011695	HP:0011695	Cerebellar hemorrhage	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	HP:0040283 - Occasional	92

Genes (6) :ACAD9 APP IVD MMUT PCCA PCCB

Diseases (5) :ORPHA:99901 OMIM:605714 OMIM:243500 OMIM:251000 OMIM:606054

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