Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 purine concentration (HP:0004352)

Parent Node:
Azotemia (HP:0002157)

Parent Node:
Decreased circulating purine concentration (HP:0004369)

..Starting node
..Hypouricemia (HP:0003537)

Term ID:

3537

Name:

Hypouricemia

Synonym:

Low blood uric acid levels

Definition:

An abnormally low level of uric acid in the blood.

Comments:

Reference:

HP:0003537

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0003537	HP:0003537	Hypouricemia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003537	HP:0003537	Hypouricemia	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0003537	HP:0003537	Hypouricemia	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0003537	HP:0003537	Hypouricemia	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0003537	HP:0003537	Hypouricemia	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0003537	HP:0003537	Hypouricemia	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0003537	HP:0003537	Hypouricemia	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	.	4
HP:0003537	HP:0003537	Hypouricemia	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003537	HP:0003537	Hypouricemia	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0003537	HP:0003537	Hypouricemia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0003537	HP:0003537	Hypouricemia	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0003537	HP:0003537	Hypouricemia	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent	52
HP:0003537	HP:0003537	Hypouricemia	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0003537	HP:0003537	Hypouricemia	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	56
HP:0003537	HP:0003537	Hypouricemia	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0003537	HP:0003537	Hypouricemia	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0003537	HP:0003537	Hypouricemia	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040280 - Obligate	57
HP:0003537	HP:0003537	Hypouricemia	0	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0003537	HP:0003537	Hypouricemia	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47

Genes (16) :ATP7B CTNS EHHADH GATM GPHN HNF4A MOCOS MOCS1 MOCS2 NDUFAF6 PNP PRPS1 SLC22A12 SLC2A2 SLC2A9 SLC34A1

Diseases (15) :OMIM:277900 ORPHA:411634 ORPHA:3337 OMIM:615501 OMIM:616026 OMIM:603592 OMIM:252150 OMIM:252160 OMIM:613179 ORPHA:760 ORPHA:1187 ORPHA:94088 OMIM:220150 OMIM:227810 OMIM:612076

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

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