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 the testis size (HP:0045058)

Parent Node:
Macroorchidism (HP:0000053)

..Starting node
..Macroorchidism, postpubertal (HP:0002050)

Term ID:

2050

Name:

Macroorchidism, postpubertal

Synonym:

Definition:

Comments:

Reference:

HP:0002050

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital macroorchidism (HP:0008640)

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:0002050	HP:0002050	Macroorchidism, postpubertal	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent	60
HP:0002050	HP:0002050	Macroorchidism, postpubertal	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30

Genes (2) :CYP19A1 FMR1

Diseases (2) :ORPHA:91 OMIM:300624

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