Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Increased urinary porphobilinogen (HP:0012217)

Term ID:

12217

Name:

Increased urinary porphobilinogen

Synonym:

Definition:

Increased concentration of porphobilinogen in the urine.

Comments:

Reference:

HP:0012217

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated urinary delta-aminolevulinic acid (HP:0003163)

Increased erythrocyte protoporphyrin concentration (HP:0012187)

Porphyrinuria (HP:0010473)

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:0012217	HP:0012217	Increased urinary porphobilinogen	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent	62
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent	81
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent	41
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0012217	HP:0012217	Increased urinary porphobilinogen	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41

Genes (7) :ALAD CPOX GATA1 HFE HMBS PPOX UROS

Diseases (8) :ORPHA:100924 OMIM:121300 OMIM:618892 ORPHA:79273 ORPHA:79277 OMIM:176200 ORPHA:79276 ORPHA:79473

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen