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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of vitamin metabolism (HP:0100508)

..Starting node
..Abnormality of vitamin C metabolism (HP:0100509)

Term ID:

100509

Name:

Abnormality of vitamin C metabolism

Synonym:

Abnormality of vitamin C metabolism

Definition:

Comments:

Reference:

HP:0100509

Genes and Diseases:

Child Nodes:

........

Vitamin C deficiency (HP:0100510)

Sister Nodes:

Abnormal circulating serine family amino acid concentration (HP:0010894)

Abnormality of vitamin A metabolism (HP:0008372)

Abnormality of vitamin B metabolism (HP:0004340)

Abnormality of vitamin D metabolism (HP:0100511)

Abnormality of vitamin E metabolism (HP:0100514)

Abnormality of vitamin K metabolism (HP:0100831)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100509	HP:0100509	Abnormality of vitamin C metabolism	0	CL E G H
HP:0100509	HP:0100510	Low levels of vitamin C	1	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.