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 fatty-acid concentration (HP:0004359)

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

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

Term ID:

3490

Name:

obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA

Synonym:

Definition:

Comments:

Reference:

HP:0003490

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperleucinemia (HP:0010911)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003490	HP:0003490	obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA	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.