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
..Communicating hydrocephalus (HP:0001334)

Term ID:

1334

Name:

Communicating hydrocephalus

Synonym:

Definition:

A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.

Comments:

Reference:

HP:0001334

Genes and Diseases:

Child Nodes:

Sister Nodes:

Noncommunicating hydrocephalus (HP:0010953)

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:0001334	HP:0001334	Communicating hydrocephalus	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0001334	HP:0001334	Communicating hydrocephalus	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001334	HP:0001334	Communicating hydrocephalus	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0001334	HP:0001334	Communicating hydrocephalus	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0001334	HP:0001334	Communicating hydrocephalus	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0001334	HP:0001334	Communicating hydrocephalus	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0001334	HP:0001334	Communicating hydrocephalus	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0001334	HP:0001334	Communicating hydrocephalus	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0001334	HP:0001334	Communicating hydrocephalus	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0001334	HP:0001334	Communicating hydrocephalus	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0001334	HP:0001334	Communicating hydrocephalus	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040284 - Very rare	136
HP:0001334	HP:0001334	Communicating hydrocephalus	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0001334	HP:0001334	Communicating hydrocephalus	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	2
HP:0001334	HP:0001334	Communicating hydrocephalus	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0001334	HP:0001334	Communicating hydrocephalus	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent	948
HP:0001334	HP:0001334	Communicating hydrocephalus	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	5
HP:0001334	HP:0001334	Communicating hydrocephalus	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0001334	HP:0001334	Communicating hydrocephalus	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0001334	HP:0001334	Communicating hydrocephalus	0	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0001334	HP:0001334	Communicating hydrocephalus	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001334	HP:0001334	Communicating hydrocephalus	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9

Genes (19) :B4GAT1 CDC42BPB CDCA7 DNAI1 DNMT3B FBN1 GCDH HELLS HERC1 MAN2B1 MPDZ P4HB PTEN SEC24D SKI SLC2A1 TRIM71 TRNT1 ZBTB24

Diseases (16) :OMIM:615287 OMIM:619841 ORPHA:2268 OMIM:244400 ORPHA:2462 ORPHA:25 OMIM:617011 ORPHA:457359 ORPHA:309282 OMIM:615219 ORPHA:2050 OMIM:112240 ORPHA:2969 ORPHA:168577 OMIM:618667 OMIM:616084

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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