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:
Hyperpigmentation of the skin (HP:0000953)

Parent Node:
Generalized hyperpigmentation (HP:0007440)

..Starting node
..Generalized bronze hyperpigmentation (HP:0007574)

Term ID:

7574

Name:

Generalized bronze hyperpigmentation

Synonym:

Bronze skin; Generalised bronze hyperpigmentation

Definition:

Comments:

Reference:

HP:0007574

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized reticulate brown pigmentation (HP:0007599)

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:0007574	HP:0007574	Generalized bronze hyperpigmentation	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0007574	HP:0007574	Generalized bronze hyperpigmentation	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0007574	HP:0007574	Generalized bronze hyperpigmentation	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0007574	HP:0007574	Generalized bronze hyperpigmentation	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent	38

Genes (3) :BMP6 CYP11A1 HFE

Diseases (3) :ORPHA:465508 ORPHA:168558 ORPHA:289548

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