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 urine homeostasis (HP:0003110)

Parent Node:
Abnormal urinary sulfate concentration (HP:0012612)

..Starting node
..Decreased urinary sulfate (HP:0003359)

Term ID:

3359

Name:

Decreased urinary sulfate

Synonym:

Decreased urinary sulfate; Decreased urinary sulphate

Definition:

Decreased concentration of sulfate in the urine.

Comments:

Reference:

HP:0003359

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased urinary sulfate (HP:0012613)

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:0003359	HP:0003359	Decreased urinary sulfate	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003359	HP:0003359	Decreased urinary sulfate	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40

Genes (2) :MOCS1 SUOX

Diseases (2) :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.