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

..Starting node
..Increased urine harderoporphyrin level (HP:0033627)

Term ID:

33627

Name:

Increased urine harderoporphyrin level

Synonym:

Definition:

Increased amount of harderoporphyrin in the urine.

Comments:

Reference:

HP:0033627

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033627	HP:0033627	Increased urine harderoporphyrin level	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	72

Genes (1) :CPOX

Diseases (1) :OMIM:618892

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