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 circulating neopterin concentration (HP:0040206)

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

Parent Node:
Abnormal CSF neopterin concentration (HP:0040203)

..Starting node
..Elevated CSF neopterin level (HP:0040204)

Term ID:

40204

Name:

Elevated CSF neopterin level

Synonym:

Definition:

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

Comments:

Reference:

HP:0040204

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased CSF neopterin level (HP:0040205)

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:0040204	HP:0040204	Elevated CSF neopterin level	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0040204	HP:0040204	Elevated CSF neopterin level	0	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.