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 branched chain amino acid concentration (HP:0010892)

..Starting node
..Abnormal circulating isoleucine concentration (HP:0010912)

Term ID:

10912

Name:

Abnormal circulating isoleucine concentration

Synonym:

Definition:

Any deviation from the normal concentration of isoleucine in the blood circulation.

Comments:

Reference:

HP:0010912

Genes and Diseases:

Child Nodes:

........

Hyperisoleucinemia (HP:0010913)

Sister Nodes:

Abnormal circulating leucine concentration (HP:0004357)

Abnormal circulating valine concentration (HP:0010914)

Elevated plasma branched chain amino acids (HP:0008344)

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:0010912	HP:0010912	Abnormal circulating isoleucine concentration	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010912	HP:0010912	Abnormal circulating isoleucine concentration	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0010912	HP:0010912	Abnormal circulating isoleucine concentration	0	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0010912	HP:0500144	Hypoisoleucinemia	1	CL E G H
HP:0010912	HP:0010913	Hyperisoleucinemia	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010912	HP:0010913	Hyperisoleucinemia	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0010912	HP:0010913	Hyperisoleucinemia	1	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1

Genes (3) :BCAT2 DLD PPM1K

Diseases (3) :OMIM:618850 ORPHA:2394 OMIM:615135

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