Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal cerebrospinal fluid morphology (HP:0002921)

Parent Node:
Abnormal circulating biopterin concentration (HP:0040210)

Parent Node:
Abnormal CSF metabolite concentration (HP:0025454)

..Starting node
..Abnormal CSF biopterin concentration (HP:0040207)

Term ID:

40207

Name:

Abnormal CSF biopterin concentration

Synonym:

Abnormal cerebrospinal fluid biopterin level; Abnormal CSF biopterin level

Definition:

Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).

Comments:

Reference:

HP:0040207

Genes and Diseases:

Child Nodes:

........

Elevated CSF biopterin level (HP:0040208)

........

Decreased CSF biopterin level (HP:0040209)

Sister Nodes:

Abnormal CSF dopamine concentration (HP:0012654)

Abnormal CSF glucose concentration (HP:0031884)

Abnormal CSF lactate concentration (HP:0030085)

Abnormal CSF neopterin concentration (HP:0040203)

Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)

Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)

Decreased CSF erythritol concentration (HP:0410056)

Decreased CSF homovanillic acid concentration (HP:0003785)

Increased CSF interferon alpha (HP:0009709)

Increased level of D-threitol in CSF (HP:0410058)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040207	HP:0040207	Abnormal CSF biopterin concentration	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0040207	HP:0040207	Abnormal CSF biopterin concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0040207	HP:0040208	Elevated CSF biopterin level	1	CL E G H
HP:0040207	HP:0040209	Decreased CSF biopterin level	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0040207	HP:0040209	Decreased CSF biopterin level	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32

Genes (2) :KARS1 NGLY1

Diseases (2) :OMIM:619147 ORPHA:404454

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