Human Phenotype Ontology 
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Abnormality of the cerebrospinal fluid (HP:0002921)help
..Starting node
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Extra-axial cerebrospinal fluid accumulation (HP:0012510)help
Term ID: 12510
Name: Extra-axial cerebrospinal fluid accumulation
Synonym: Extra-axial CSF accumulation
Definition: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.
Comments:
Reference: HP:0012510
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal CSF metabolite level (HP:0025454) help
..expandAbnormal CSF protein level (HP:0025456) help
..expandAbnormal CSF/serum albumin ratio (HP:0030981) help
..expandCerebrospinal fluid rhinorrhoea (HP:0030998) help
..expandCSF pleocytosis (HP:0012229) help
..expandHydrocephalus (HP:0000238) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012510HP:0012510Extra-axial cerebrospinal fluid accumulation0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM072228261616899


Genes (1) :TBCK

Diseases (1) :616900
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.