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 metabolism/homeostasis (HP:0001939)

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

..Starting node
..Increased erythrocyte protoporphyrin concentration (HP:0012187)

Term ID:

12187

Name:

Increased erythrocyte protoporphyrin concentration

Synonym:

Definition:

An increased concentration of protoporphyrins in erythrocytes.

Comments:

Reference:

HP:0012187

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated urinary delta-aminolevulinic acid (HP:0003163)

Increased urinary porphobilinogen (HP:0012217)

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:0012187	HP:0012187	Increased erythrocyte protoporphyrin concentration	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent	62
HP:0012187	HP:0012187	Increased erythrocyte protoporphyrin concentration	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0012187	HP:0012187	Increased erythrocyte protoporphyrin concentration	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0012187	HP:0012187	Increased erythrocyte protoporphyrin concentration	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41

Genes (4) :ALAD ALAS2 GATA1 UROS

Diseases (3) :ORPHA:100924 OMIM:300752 ORPHA:79277

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