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 carboxylic acid concentration (HP:0004354)

Parent Node:
Abnormality of amino acid metabolism (HP:0004337)

..Starting node
..Abnormal circulating histidine concentration (HP:0010904)

Term ID:

10904

Name:

Abnormal circulating histidine concentration

Synonym:

Abnormality of histidine metabolism

Definition:

An abnormality of a histidine metabolic process.

Comments:

Reference:

HP:0010904

Genes and Diseases:

Child Nodes:

........

Histidinuria (HP:0002927)

........

Hyperhistidinemia (HP:0010906)

Sister Nodes:

Abnormal circulating amino acid concentration (HP:0003112)

Abnormal circulating aromatic amino acid concentration (HP:0004338)

Abnormal circulating aspartate family amino acid concentration (HP:0010899)

Abnormal circulating branched chain amino acid concentration (HP:0010892)

Abnormal circulating citrulline concentration (HP:0011965)

Abnormal circulating creatine concentration (HP:0012113)

Abnormal circulating glutamine family amino acid concentration (HP:0010902)

Abnormal circulating ornithine concentration (HP:0012025)

Abnormal circulating pyruvate family amino acid concentration (HP:0010915)

Abnormal circulating sulfur amino acid concentration (HP:0004339)

Aminoaciduria (HP:0003355)

Hyperbeta-alaninemia (HP:0012556)

Propionyl-CoA carboxylase deficiency (HP:0003353)

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:0010904	HP:0010904	Abnormal circulating histidine concentration	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040281 - Very frequent	65
HP:0010904	HP:0010904	Abnormal circulating histidine concentration	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia		73
HP:0010904	HP:0010904	Abnormal circulating histidine concentration	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0010904	HP:0010904	Abnormal circulating histidine concentration	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8
HP:0010904	HP:0500145	Hypohistidinemia	1	CL E G H
HP:0010904	HP:0010906	Hyperhistidinemia	1	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040280 - Obligate	73

Genes (4) :FTCD HAL PNPO UROC1

Diseases (4) :ORPHA:51208 ORPHA:2157 ORPHA:79096 ORPHA:210128

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