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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating porphyrin concentration (HP:0010472)

..Starting node
..Porphyrinuria (HP:0010473)

Term ID:

10473

Name:

Porphyrinuria

Synonym:

Definition:

Abnormally increased excretion of porphyrins in the urine.

Comments:

Reference:

HP:0010473

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated urinary delta-aminolevulinic acid (HP:0003163)

Increased erythrocyte protoporphyrin concentration (HP:0012187)

Increased urinary porphobilinogen (HP:0012217)

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:0010473	HP:0010473	Porphyrinuria	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0010473	HP:0010473	Porphyrinuria	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0010473	HP:0010473	Porphyrinuria	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0010473	HP:0010473	Porphyrinuria	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda		38
HP:0010473	HP:0010473	Porphyrinuria	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.	38
HP:0010473	HP:0010473	Porphyrinuria	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent	81
HP:0010473	HP:0010473	Porphyrinuria	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent	41
HP:0010473	HP:0010473	Porphyrinuria	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.	41
HP:0010473	HP:0010473	Porphyrinuria	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040282 - Frequent	52
HP:0010473	HP:0010473	Porphyrinuria	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040282 - Frequent	60
HP:0010473	HP:0010473	Porphyrinuria	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda		31
HP:0010473	HP:0010473	Porphyrinuria	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41
HP:0010473	HP:0033627	Increased urine harderoporphyrin level	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72

Genes (9) :CPOX GATA1 HFE HMBS PPOX SLCO1B1 SLCO1B3 UROD UROS

Diseases (8) :OMIM:618892 ORPHA:79273 ORPHA:79277 OMIM:176100 OMIM:176200 ORPHA:79276 ORPHA:79473 ORPHA:3111

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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