Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebral ventricle morphology (HP:0002118)help
Grandparent Node:
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Abnormal cerebrospinal fluid morphology (HP:0002921)help
Parent Node:
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Hydrocephalus (HP:0000238)help
..Starting node
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Normal pressure hydrocephalus (HP:0002343)help
Term ID: 2343
Name: Normal pressure hydrocephalus
Synonym: Normal-pressure hydrocephalus
Definition: A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.
Comments:
Reference: HP:0002343
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCommunicating hydrocephalus (HP:0001334) help
..expandNoncommunicating hydrocephalus (HP:0010953) help
..expandSevere hydrocephalus (HP:0006882) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002343HP:0002343Normal pressure hydrocephalus0CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 16
HP:0002343HP:0002343Normal pressure hydrocephalus0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0002343HP:0002343Normal pressure hydrocephalus0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0002343HP:0002343Normal pressure hydrocephalus0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64


Genes (4) :CFAP43 ERCC6 ERCC8 TUBB3

Diseases (4) :OMIM:236690 OMIM:133540 OMIM:216400 ORPHA:300570
 

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