Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebrospinal fluid morphology (HP:0002921)help
Parent Node:
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Abnormal CSF metabolite concentration (HP:0025454)help
..Starting node
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Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)help
Term ID: 25455
Name: Decreased CSF 5-hydroxyindolacetic acid concentration
Synonym: Decreased CSF 5-HIAA; Low CSF 5-HIAA; Low CSF 5-hydroxyindolacetic acid
Definition: 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.
Comments:
Reference: HP:0025455
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal CSF biopterin concentration (HP:0040207) help
..expandAbnormal CSF dopamine concentration (HP:0012654) help
..expandAbnormal CSF glucose concentration (HP:0031884) help
..expandAbnormal CSF lactate concentration (HP:0030085) help
..expandAbnormal CSF neopterin concentration (HP:0040203) help
..expandDecreased CSF 5-methyltetrahydrofolate concentration (HP:0012446) help
..expandDecreased CSF erythritol concentration (HP:0410056) help
..expandDecreased CSF homovanillic acid concentration (HP:0003785) help
..expandIncreased CSF interferon alpha (HP:0009709) help
..expandIncreased level of D-threitol in CSF (HP:0410058) 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:0025455HP:0025455Decreased CSF 5-hydroxyindolacetic acid concentration0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0025455HP:0025455Decreased CSF 5-hydroxyindolacetic acid concentration0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0025455HP:0025455Decreased CSF 5-hydroxyindolacetic acid concentration0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32


Genes (2) :ERCC6 NGLY1

Diseases (3) :OMIM:278800 ORPHA:404454 OMIM:615273
 

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