Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the cerebrospinal fluid (HP:0002921)help
Parent Node:
expandAbnormal CSF metabolite level (HP:0025454)help
..Starting node
..expandAbnormal CSF lactate level (HP:0030085)help
Term ID: 30085
Name: Abnormal CSF lactate level
Synonym:
Definition: Abnormal concentration of lactate in the cerebrospinal fluid.
Comments:
Reference: HP:0030085
Genes and Diseases:
 
       Child Nodes:
........expandIncreased CSF lactate (HP:0002490) help
........expandReduced CSF lactate (HP:0030086) help

 Sister Nodes: 
..expandAbnormal CSF biopterin level (HP:0040207) help
..expandAbnormal CSF dopamine level (HP:0012654) help
..expandAbnormal CSF glucose level (HP:0031884) help
..expandAbnormal CSF neopterin level (HP:0040203) help
..expandDecreased CSF 5-hydroxyindolacetic acid (HP:0025455) help
..expandDecreased CSF 5-methyltetrahydrofolate concentration (HP:0012446) help
..expandDecreased CSF homovanillic acid (HP:0003785) help
..expandDecreased level of erythritol in CSF (HP:0410056) help
..expandIncreased CSF interferon alpha (HP:0009709) help
..expandIncreased level of D-threitol in CSF (HP:0410058) 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:0030085HP:0030085Abnormal CSF lactate level0 CL E G H
HP:0030085HP:0030086Reduced CSF lactate1 CL E G H
HP:0030085HP:0002490Increased CSF lactate1 CL E G H


Genes (56) :AIFM1 BCS1L C12ORF65 COA7 COA8 COQ8A COX10 COX14 COX15 COX20 COX6B1 COX8A ECHS1 FASTKD2 FOXRED1 GFM1 HTRA2 LIPT1 LRPPRC MDH2 MRPS34 MTFMT NAXE NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDHA1 PET100 RARS2 RMND1 SCO1 SCO2 SDHA SLC19A3 SLC25A19 SURF1 TACO1 TRMT10C TRNN TRNS1 TXN2

Diseases (26) :238329 300816 256000 613559 220110 436271 139485 255241 616277 609060 617248 220111 617339 617664 614947 617186 618252 252010 312170 611523 614922 604377 613710 616974 478029 616811
 

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