Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nervous system morphology (HP:0012639)help
Parent Node:
expandMorphological central nervous system abnormality (HP:0002011)help
..Starting node
..expandAbnormality of the cerebrospinal fluid (HP:0002921)help
Term ID: 2921
Name: Abnormality of the cerebrospinal fluid
Synonym: Abnormal CSF findings; Abnormality of the CSF
Definition: An abnormality of the cerebrospinal fluid (CSF).
Comments:
Reference: HP:0002921
Genes and Diseases:
 
       Child Nodes:
........expandHydrocephalus (HP:0000238) help
................... HP:0001334 Communicating hydrocephalus
................... HP:0002343 Normal pressure hydrocephalus
................... HP:0006882 Severe hydrocephalus
................... HP:0010953 Noncommunicating hydrocephalus
........expandCSF pleocytosis (HP:0012229) help
................... HP:0012756 CSF polymorphonuclear pleocytosis
................... HP:0200149 CSF lymphocytic pleiocytosis
........expandExtra-axial cerebrospinal fluid accumulation (HP:0012510) help
........expandAbnormal CSF metabolite level (HP:0025454) help
................... HP:0003785 Decreased CSF homovanillic acid
................... HP:0009709 Increased CSF interferon alpha
................... HP:0012446 Low CSF 5-methyltetrahydrofolate
................... HP:0012654 Abnormal CSF dopamine level
................... HP:0025455 Decreased CSF 5-hydroxyindolacetic acid
................... HP:0030085 Abnormal CSF lactate level
................... HP:0031884 Abnormal CSF glucose level
................... HP:0040203 Abnormal CSF neopterin level
................... HP:0040207 Abnormal CSF biopterin level
................... HP:0410056 Decreased level of erythritol in CSF
................... HP:0410058 Increased level of D-threitol in CSF
........expandAbnormal CSF protein level (HP:0025456) help
................... HP:0002922 Increased CSF protein
................... HP:0025457 Decreased CSF protein
................... HP:0025458 Decreased CSF albumin
................... HP:0030860 Abnormal CSF amyloid level
........expandAbnormal CSF/serum albumin ratio (HP:0030981) help
................... HP:0025459 Increased CSF/serum albumin ratio
................... HP:0030978 Decreased CSF/serum albumin ratio
........expandCerebrospinal fluid rhinorrhoea (HP:0030998) help

 Sister Nodes: 
..expandAbnormal CNS myelination (HP:0011400) help
..expandAbnormal glial cell morphology (HP:0100705) help
..expandAbnormal meningeal morphology (HP:0010651) help
..expandAbnormal neural tube morphology (HP:0410043) help
..expandAbnormal subarachnoid space morphology (HP:0012703) help
..expandAbnormality of brain morphology (HP:0012443) help
..expandAbnormality of neuronal migration (HP:0002269) help
..expandAbnormality of the spinal cord (HP:0002143) help
..expandAlzheimer disease (HP:0002511) help
..expandAplasia/Hypoplasia involving the central nervous system (HP:0002977) help
..expandAtrophy/Degeneration affecting the central nervous system (HP:0007367) help
..expandCentral nervous system cyst (HP:0030724) help
..expandEncephalocele (HP:0002084) help
..expandMorphological abnormality of the pyramidal tract (HP:0002062) help
..expandNeoplasm of the central nervous system (HP:0100006) help
..expandUnusual CNS infection (HP:0011450) 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:0002921HP:0002921Abnormality of the cerebrospinal fluid0DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0002921Abnormality of the cerebrospinal fluid0POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0002921Abnormality of the cerebrospinal fluid0TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0000238Hydrocephalus1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012229CSF pleocytosis1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012510Extra-axial cerebrospinal fluid accumulation1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030981Abnormal CSF/serum albumin ratio1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0025454Abnormal CSF metabolite level1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0410310Abnormality of neutrophil morphology in CSF1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0025456Abnormal CSF protein level1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030998Cerebrospinal fluid rhinorrhoea1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012510Extra-axial cerebrospinal fluid accumulation1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030981Abnormal CSF/serum albumin ratio1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0012229CSF pleocytosis1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410310Abnormality of neutrophil morphology in CSF1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0025456Abnormal CSF protein level1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030998Cerebrospinal fluid rhinorrhoea1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0025454Abnormal CSF metabolite level1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0000238Hydrocephalus1POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410310Abnormality of neutrophil morphology in CSF1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025456Abnormal CSF protein level1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030998Cerebrospinal fluid rhinorrhoea1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025454Abnormal CSF metabolite level1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0000238Hydrocephalus1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012510Extra-axial cerebrospinal fluid accumulation1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030981Abnormal CSF/serum albumin ratio1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012229CSF pleocytosis1TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025457Decreased CSF protein2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030085Abnormal CSF lactate level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0032928Elevated CSF neurofilamant light chain2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0025459Increased CSF/serum albumin ratio2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0009709Increased CSF interferon alpha2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0041043Neutrophil nuclear clefts2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0006882Severe hydrocephalus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0200149CSF lymphocytic pleiocytosis2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0040207Abnormal CSF biopterin level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0032650Elevated CSF glial fibrillary acidic protein level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0500117Abnormal CSF urate concentration2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030978Decreased CSF/serum albumin ratio2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012446Decreased CSF 5-methyltetrahydrofolate concentration2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0033503Elevated CSF fumarate2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0410311Hyposegmentation of neutrophil nuclei in CSF2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0002343Normal pressure hydrocephalus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012654Abnormal CSF dopamine level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0032652Elevated CSF chitotriosidase 1 level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0040203Abnormal CSF neopterin level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0410058Increased level of D-threitol in CSF2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0003785Decreased CSF homovanillic acid2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0410312Hypersegmentation of neutrophil nuclei in CSF2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0010953Noncommunicating hydrocephalus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0500238Abnormal CSF albumin concentration2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030860Abnormal CSF amyloid level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012756CSF polymorphonuclear pleocytosis2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0031884Abnormal CSF glucose level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0032651Elevated CSF chitinase-3-like protein 1 level2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0002922Increased CSF protein2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0410056Decreased level of erythritol in CSF2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0025455Decreased CSF 5-hydroxyindolacetic acid2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0001334Communicating hydrocephalus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0032652Elevated CSF chitotriosidase 1 level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040203Abnormal CSF neopterin level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410058Increased level of D-threitol in CSF2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0003785Decreased CSF homovanillic acid2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410312Hypersegmentation of neutrophil nuclei in CSF2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0010953Noncommunicating hydrocephalus2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0500238Abnormal CSF albumin concentration2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0012654Abnormal CSF dopamine level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0012756CSF polymorphonuclear pleocytosis2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0031884Abnormal CSF glucose level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0032651Elevated CSF chitinase-3-like protein 1 level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0002922Increased CSF protein2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410056Decreased level of erythritol in CSF2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0025455Decreased CSF 5-hydroxyindolacetic acid2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0001334Communicating hydrocephalus2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030860Abnormal CSF amyloid level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0025457Decreased CSF protein2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030085Abnormal CSF lactate level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0032928Elevated CSF neurofilamant light chain2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0025459Increased CSF/serum albumin ratio2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0009709Increased CSF interferon alpha2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0041043Neutrophil nuclear clefts2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0006882Severe hydrocephalus2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040207Abnormal CSF biopterin level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0032650Elevated CSF glial fibrillary acidic protein level2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0500117Abnormal CSF urate concentration2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030978Decreased CSF/serum albumin ratio2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0012446Decreased CSF 5-methyltetrahydrofolate concentration2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0033503Elevated CSF fumarate2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410311Hyposegmentation of neutrophil nuclei in CSF2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0002343Normal pressure hydrocephalus2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0200149CSF lymphocytic pleiocytosis2POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030860Abnormal CSF amyloid level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012756CSF polymorphonuclear pleocytosis2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0031884Abnormal CSF glucose level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0032651Elevated CSF chitinase-3-like protein 1 level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0002922Increased CSF protein2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0410056Decreased level of erythritol in CSF2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025455Decreased CSF 5-hydroxyindolacetic acid2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0001334Communicating hydrocephalus2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025457Decreased CSF protein2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030085Abnormal CSF lactate level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0032928Elevated CSF neurofilamant light chain2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025459Increased CSF/serum albumin ratio2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0009709Increased CSF interferon alpha2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0041043Neutrophil nuclear clefts2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0006882Severe hydrocephalus2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0200149CSF lymphocytic pleiocytosis2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0040207Abnormal CSF biopterin level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0032650Elevated CSF glial fibrillary acidic protein level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0500117Abnormal CSF urate concentration2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030978Decreased CSF/serum albumin ratio2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012446Decreased CSF 5-methyltetrahydrofolate concentration2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0033503Elevated CSF fumarate2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0410311Hyposegmentation of neutrophil nuclei in CSF2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0002343Normal pressure hydrocephalus2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012654Abnormal CSF dopamine level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0032652Elevated CSF chitotriosidase 1 level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0040203Abnormal CSF neopterin level2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0410058Increased level of D-threitol in CSF2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0003785Decreased CSF homovanillic acid2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0410312Hypersegmentation of neutrophil nuclei in CSF2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0010953Noncommunicating hydrocephalus2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0500238Abnormal CSF albumin concentration2TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0500239Increased CSF albumin concentration3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0009704Chronic CSF lymphocytosis3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012656Reduced CSF dopamine level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0040209Decreased CSF biopterin level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0040204Elevated CSF neopterin level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0410199Increased CSF urate concentration3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0025458Decreased CSF albumin concentration3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0012655Elevated CSF dopamine level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030862Elevated CSF amyloid level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0011972Hypoglycorrhachia3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0040205Decreased CSF neopterin level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030861Decreased CSF amyloid level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0031885Hyperglycorrhachia3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030086Reduced CSF lactate3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0040208Elevated CSF biopterin level3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0002490Increased CSF lactate3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0002921HP:0030861Decreased CSF amyloid level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0031885Hyperglycorrhachia3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030086Reduced CSF lactate3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040208Elevated CSF biopterin level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0002490Increased CSF lactate3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0009704Chronic CSF lymphocytosis3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0012656Reduced CSF dopamine level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040209Decreased CSF biopterin level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040204Elevated CSF neopterin level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0410199Increased CSF urate concentration3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0500239Increased CSF albumin concentration3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0012655Elevated CSF dopamine level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0030862Elevated CSF amyloid level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0011972Hypoglycorrhachia3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040205Decreased CSF neopterin level3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0025458Decreased CSF albumin concentration3POLG CL E G H5428254886ORPHA023249179174763
HP:0002921HP:0040208Elevated CSF biopterin level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0002490Increased CSF lactate3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0500239Increased CSF albumin concentration3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0009704Chronic CSF lymphocytosis3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012656Reduced CSF dopamine level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0040209Decreased CSF biopterin level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0040204Elevated CSF neopterin level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0410199Increased CSF urate concentration3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0012655Elevated CSF dopamine level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030862Elevated CSF amyloid level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0011972Hypoglycorrhachia3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0040205Decreased CSF neopterin level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0025458Decreased CSF albumin concentration3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030861Decreased CSF amyloid level3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0031885Hyperglycorrhachia3TK2 CL E G H7084254886ORPHA044211831188250
HP:0002921HP:0030086Reduced CSF lactate3TK2 CL E G H7084254886ORPHA044211831188250


Genes (356) :ABHD5 ADAR AHI1 AIFM1 AKT3 ALG13 AMER1 AP1S2 ARHGAP31 ARL13B ARL3 ARMC9 ARSA ARSB ARVCF B3GALNT2 B3GAT3 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BCS1L BRAF BRCA1 BRCA2 BRIP1 BTNL2 BUB1B C12ORF65 CC2D2A CCDC22 CCDC88C CCND2 CD59 CDCA7 CENPF CEP104 CEP120 CEP290 CEP41 CEP55 CEP83 CHST3 CLCN7 CLIC2 COA7 COA8 COL18A1 COL4A1 COMT COQ8A COX10 COX14 COX15 COX20 COX6B1 COX7B COX8A CPLANE1 CPLX1 CRB2 CRPPA CSPP1 CTBP1 CTNNB1 CTSK CYP26C1 DAG1 DDC DENND5A DHCR24 DHCR7 DLL4 DMPK DNAI1 DNMT1 DNMT3B DOCK6 DOK7 EBP ECHS1 EGR2 EML1 EOGT ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FASTKD2 FBN1 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKRP FKTN FLNA FLVCR2 FOXRED1 FRAS1 FTO GALC GBA GCH1 GFAP GFM1 GLI2 GLI3 GMPPB GNAQ GP1BB GPC3 GPC4 GPSM2 GUSB HBA1 HBA2 HCCS HDAC6 HELLS HERC1 HIRA HLA-DRB1 HNRNPU HRAS HTRA2 HYLS1 ICK IDS IDUA IFIH1 IFT172 IFT43 INPP5E JMJD1C KDM6A KIAA0556 KIAA0586 KIAA1109 KIF1A KIF7 KMT2D KRAS L1CAM LAMB1 LARGE1 LETM1 LIG4 LIPT1 LMBR1 LRPPRC MAD2L2 MAP2K1 MAP2K2 MBTPS2 MC1R MDH2 MED12 MFN2 MKS1 MMACHC MPDZ MPZ MRPS34 MTFMT MTM1 MUSK NAXE NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NF1 NGLY1 NOTCH1 NOTCH2 NPHP1 NRAS NSD2 NSUN2 OCLN OFD1 OGDH OSTM1 P4HB PALB2 PDHA1 PET100 PEX19 PEX7 PHYH PIBF1 PIEZO2 PIGV PIK3CA PIK3R2 PLG PMP22 PNPO POLG POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPP1CB PPP2R1A PPP2R5D PRDX1 PRF1 PRKAR1A PRNP PRX PSAP PTCH1 PTCH2 PTDSS1 PTEN PYCR1 RAD51 RAD51C RANBP2 RAP1A RAP1B RAPSN RARS2 RBPJ RECQL4 RFWD3 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF125 ROGDI RPGRIP1 RPGRIP1L RPIA RREB1 RRM2B RSPO2 RXYLT1 SAMD9 SAMHD1 SCO1 SCO2 SDHA SEC24C SEC24D SF3B4 SHOC2 SIK3 SKI SLC12A6 SLC13A5 SLC17A5 SLC19A3 SLC25A19 SLC25A24 SLC29A3 SLC2A1 SLX4 SMARCB1 SMOC1 SNX10 SOX2 SOX9 SUFU SUMF1 SURF1 TACO1 TBCK TBX1 TBX15 TCIRG1 TCTN1 TCTN2 TGFBR1 TGFBR2 TH TK2 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TNFRSF11A TNFSF11 TP53 TREM2 TREX1 TRMT10C TRNN TRNS1 TRPV4 TSC1 TSC2 TTR TUBB3 TXN2 TYMP TYROBP UBE2T UFD1 VAC14 VANGL2 VHL VSX1 WASHC5 WDPCP WDR81 WHCR WNT3 XRCC2 ZBTB20 ZBTB24 ZIC2 ZIC3 ZNF423 ZNHIT3

Diseases (288) :314404 254886 220493 475 83473 615937 300884 300373 85335 304340 974 253200 567 588 899 615181 245600 709 261540 79332 615287 564 54595 115150 1340 84 257300 2318 1454 612284 7 236600 615938 243605 611134 615862 53 667 300886 1571 175780 2556 309801 194190 219730 614643 763 398189 616538 617281 35107 602398 270400 273 208150 300960 600348 220295 3267 207 268300 602361 259775 3412 314390 614083 616914 613001 101600 93259 87 1555 101200 207410 123790 93262 53271 93274 1860 100800 15 612247 616482 187600 3472 613153 236670 253800 272 90652 304120 225790 219000 612938 245200 2072 231005 203450 610829 380 175700 3205 312870 604213 253220 163596 163966 300863 617011 238769 218040 2189 612651 309900 93473 607014 615630 617866 2322 616546 617822 2836 614120 2182 304100 303350 307000 615191 613154 235 2378 85284 626 305450 99947 249000 79282 277400 310400 162200 955 102500 220497 249400 311200 31 259720 112240 614886 2461 239300 60040 602501 603387 722 97231 217090 253280 614830 615249 613150 305600 2701 616362 616355 603553 101800 377 77301 109400 610828 2658 65285 612940 617244 218600 610333 616260 1946 3301 617053 616294 154400 618162 182212 269920 612289 168569 99966 1106 77298 114290 585 272200 616900 260660 259700 609192 610168 608091 614424 607361 612301 2807 2770 2635 538 182940 892 614195 220210 617967 273395 3042 609637 98907 51 309263 309256 309271 250100 797 612300 2268 608643 244400 145900 133540 216400 2462 98808 236680 615219 101082 615273 251290 2050 266500 79096 610090 258450 298 203700 282166 123400 611722 2969 88619 610329 608611 612952 218000 101150 605407 225750 105210 300570 478029 616811 238329 300816 256000 613559 220110 436271 139485 255241 616277 609060 617248 220111 617339 617664 614947 617186 618252 252010 312170 611523 614922 610181 604377 613710 71277 606777 612126 608885 616974
 

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