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:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Soft tissue neoplasm (HP:0031459)

..Starting node
..Diffuse leiomyomatosis (HP:0006756)

Term ID:

6756

Name:

Diffuse leiomyomatosis

Synonym:

Definition:

Comments:

Reference:

HP:0006756

Genes and Diseases:

Child Nodes:

Sister Nodes:

Benign muscle neoplasm (HP:0031460)

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:0006756	HP:0006756	Diffuse leiomyomatosis	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0006756	HP:0006756	Diffuse leiomyomatosis	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	678
HP:0006756	HP:0006756	Diffuse leiomyomatosis	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	18

Genes (2) :COL4A5 COL4A6

Diseases (2) :OMIM:301050 ORPHA:1018

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