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 biopterin concentration (HP:0040210)

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

Parent Node:
Abnormal CSF biopterin concentration (HP:0040207)

..Starting node
..Decreased CSF biopterin level (HP:0040209)

Term ID:

40209

Name:

Decreased CSF biopterin level

Synonym:

Decreased cerebrospinal fluid biopterin level

Definition:

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

Comments:

Reference:

HP:0040209

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated CSF biopterin level (HP:0040208)

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:0040209	HP:0040209	Decreased CSF biopterin level	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0040209	HP:0040209	Decreased CSF biopterin level	0	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.