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:
Intracranial hemorrhage (HP:0002170)

Parent Node:
Cerebral hemorrhage (HP:0001342)

..Starting node
..Antenatal intracerebral hemorrhage (HP:0007023)

Term ID:

7023

Name:

Antenatal intracerebral hemorrhage

Synonym:

Antenatal intracerebral haemorrhage

Definition:

Cerebral hemorrhage that occurs before birth.

Comments:

Reference:

HP:0007023

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent cerebral hemorrhage (HP:0004968)

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:0007023	HP:0007023	Antenatal intracerebral hemorrhage	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0007023	HP:0007023	Antenatal intracerebral hemorrhage	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96

Genes (2) :CPT2 NDE1

Diseases (2) :OMIM:608836 ORPHA:2177

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