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 CSF metabolite concentration (HP:0025454)

Parent Node:
Abnormal CSF dopamine concentration (HP:0012654)

..Starting node
..Elevated CSF dopamine concentration (HP:0012655)

Term ID:

12655

Name:

Elevated CSF dopamine concentration

Synonym:

Definition:

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

Comments:

Reference:

HP:0012655

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced CSF dopamine concentration (HP:0012656)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012655	HP:0012655	Elevated CSF dopamine concentration	0	CL E G H

Genes (0) :

Diseases (0) :

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