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:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Parent Node:
Anencephaly (HP:0002323)

..Starting node
..Hydranencephaly (HP:0002324)

Term ID:

2324

Name:

Hydranencephaly

Synonym:

Hydrancephaly

Definition:

A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.

Comments:

Reference:

HP:0002324

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arrhinencephaly (HP:0002139)

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:0002324	HP:0002324	Hydranencephaly	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0002324	HP:0002324	Hydranencephaly	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002324	HP:0002324	Hydranencephaly	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0002324	HP:0002324	Hydranencephaly	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0002324	HP:0002324	Hydranencephaly	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002324	HP:0002324	Hydranencephaly	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0002324	HP:0002324	Hydranencephaly	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0002324	HP:0002324	Hydranencephaly	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27

Genes (8) :CEP55 FLVCR2 GPKOW NDE1 PHGDH SNRPB TBX15 WDR81

Diseases (8) :OMIM:236500 OMIM:225790 ORPHA:2570 OMIM:605013 OMIM:256520 ORPHA:1393 OMIM:260660 OMIM:617967

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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