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 branched chain amino acid concentration (HP:0010892)

Parent Node:
Abnormal circulating leucine concentration (HP:0004357)

..Starting node
..Hyperleucinemia (HP:0010911)

Term ID:

10911

Name:

Hyperleucinemia

Synonym:

High blood leucine concentration

Definition:

An increased concentration of leucine in the blood.

Comments:

Reference:

HP:0010911

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA (HP:0003490)

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:0010911	HP:0010911	Hyperleucinemia	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010911	HP:0010911	Hyperleucinemia	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	77
HP:0010911	HP:0010911	Hyperleucinemia	0	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV	1

Genes (3) :BCAT2 MCCC2 PPM1K

Diseases (3) :OMIM:618850 OMIM:210210 OMIM:615135

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