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 sulfur amino acid concentration (HP:0004339)

..Starting node
..Sulfite oxidase deficiency (HP:0003643)

Term ID:

3643

Name:

Sulfite oxidase deficiency

Synonym:

Definition:

Abnormally reduced sulfite oxidase level.

Comments:

Reference:

HP:0003643

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating cysteine concentration (HP:0010918)

Abnormal circulating homocysteine concentration (HP:0010919)

Abnormal circulating methionine concentration (HP:0010901)

Cystathioninemia (HP:0003286)

Cystathioninuria (HP:0003153)

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:0003643	HP:0003643	Sulfite oxidase deficiency	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0003643	HP:0003643	Sulfite oxidase deficiency	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003643	HP:0003643	Sulfite oxidase deficiency	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40

Genes (3) :GPHN MOCS1 SUOX

Diseases (3) :OMIM:615501 OMIM:252150 OMIM:272300

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