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:
Abnormality of amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating amino acid concentration (HP:0003112)

..Starting node
..Decreased circulating GABA concentration (HP:0410054)

Term ID:

410054

Name:

Decreased circulating GABA concentration

Synonym:

Decreased circulating gamma-aminobutyric acid concentration; Decreased level of gamma-aminobutyric acid in serum

Definition:

A decrease in the level of GABA in the serum.

Comments:

Reference:

HP:0410054

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated circulating gamma-aminobutyric acid concentration (HP:0410053)

Hyperalaninemia (HP:0003348)

Hyperglutaminemia (HP:0003217)

Hyperglycinemia (HP:0002154)

Hyperlysinemia (HP:0002161)

Hyperthreoninemia (HP:0003354)

Hypoglycinemia (HP:0012277)

Hypomethioninemia (HP:0003658)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410054	HP:0410054	Decreased circulating GABA concentration	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	74
HP:0410054	HP:0410054	Decreased circulating GABA concentration	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	38
HP:0410054	HP:0410054	Decreased circulating GABA concentration	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	11
HP:0410054	HP:0410054	Decreased circulating GABA concentration	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	8
HP:0410054	HP:0410054	Decreased circulating GABA concentration	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	50

Genes (5) :APP HFE MPO NOS3 PLAU

Diseases (1) :OMIM:104300

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