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:
Hamartoma (HP:0010566)

Grandparent Node:
Renal neoplasm (HP:0009726)

Parent Node:
Renal hamartoma (HP:0008696)

..Starting node
..Renal angiomyolipoma (HP:0006772)

Term ID:

6772

Name:

Renal angiomyolipoma

Synonym:

Angiomyolipoma; Kidney angiomyolipoma

Definition:

A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.

Comments:

Reference:

HP:0006772

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006772	HP:0006772	Renal angiomyolipoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0006772	HP:0006772	Renal angiomyolipoma	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0006772	HP:0006772	Renal angiomyolipoma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0006772	HP:0006772	Renal angiomyolipoma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0006772	HP:0006772	Renal angiomyolipoma	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0006772	HP:0006772	Renal angiomyolipoma	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0006772	HP:0006772	Renal angiomyolipoma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0006772	HP:0006772	Renal angiomyolipoma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0006772	HP:0006772	Renal angiomyolipoma	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0006772	HP:0006772	Renal angiomyolipoma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0006772	HP:0006772	Renal angiomyolipoma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738

Genes (5) :CDKN1B IFNG MVK TSC1 TSC2

Diseases (7) :ORPHA:276152 OMIM:610755 ORPHA:805 OMIM:613254 OMIM:260920 ORPHA:538 OMIM:191100

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