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 neopterin concentration (HP:0040206)

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

..Starting node
..Abnormal CSF neopterin concentration (HP:0040203)

Term ID:

40203

Name:

Abnormal CSF neopterin concentration

Synonym:

Abnormal CSF neopterin level

Definition:

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

Comments:

Reference:

HP:0040203

Genes and Diseases:

Child Nodes:

........

Elevated CSF neopterin level (HP:0040204)

........

Decreased CSF neopterin level (HP:0040205)

Sister Nodes:

Abnormal CSF biopterin concentration (HP:0040207)

Abnormal CSF dopamine concentration (HP:0012654)

Abnormal CSF glucose concentration (HP:0031884)

Abnormal CSF lactate concentration (HP:0030085)

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:0040203	HP:0040203	Abnormal CSF neopterin concentration	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0040203	HP:0040203	Abnormal CSF neopterin concentration	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0040203	HP:0040205	Decreased CSF neopterin level	1	CL E G H
HP:0040203	HP:0040204	Elevated CSF neopterin level	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0040203	HP:0040204	Elevated CSF neopterin level	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9

Genes (2) :PNPT1 STAT2

Diseases (2) :ORPHA:319514 OMIM:616636

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