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 ventricle morphology (HP:0002118)

Grandparent Node:
Abnormal cerebrospinal fluid morphology (HP:0002921)

Parent Node:
Hydrocephalus (HP:0000238)

..Starting node
..Noncommunicating hydrocephalus (HP:0010953)

Term ID:

10953

Name:

Noncommunicating hydrocephalus

Synonym:

Definition:

A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.

Comments:

Reference:

HP:0010953

Genes and Diseases:

Child Nodes:

Sister Nodes:

Communicating hydrocephalus (HP:0001334)

Normal pressure hydrocephalus (HP:0002343)

Severe hydrocephalus (HP:0006882)

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:0010953	HP:0010953	Noncommunicating hydrocephalus	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0010953	HP:0010953	Noncommunicating hydrocephalus	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0010953	HP:0010953	Noncommunicating hydrocephalus	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0010953	HP:0010953	Noncommunicating hydrocephalus	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0010953	HP:0010953	Noncommunicating hydrocephalus	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0010953	HP:0010953	Noncommunicating hydrocephalus	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738

Genes (6) :BICRA FOXJ1 IFNG KDM4B TSC1 TSC2

Diseases (4) :OMIM:619325 OMIM:618699 ORPHA:805 OMIM:619320

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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