Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Genital Diseases, Female (D005831)
Parent Node: Genital Diseases, Male (D005832)
..Starting node ..Infertility (D007246)
Child Nodes:
........Infertility, Female (D007247)
........Infertility, Male (D007248) 24
Sister Nodes:
..Epididymitis (D004823)
..Fournier Gangrene (D018934)
..Genital Neoplasms, Male (D005834) 34
..Hematocele (D006398)
..Hemospermia (D051516)
..Hennekam lymphangiectasia lymphedema syndrome (C537255)
..Herpes Genitalis (D006558)
..Infertility (D007246) 26
..Penile Diseases (D010409) 28
..Penis agenesis (C536649)
..Prostatic Diseases (D011469) 24
..Reproductive Tract Infections (D060737)
..Sexual Dysfunction, Physiological (D012735) 5
..Sexually Transmitted Diseases (D012749) 41
..Spermatic Cord Torsion (D013086)
..Spermatocele (D013088)
..Testicular Diseases (D013733) 28
..Testicular Hydrocele (D006848)
..Tuberculosis, Male Genital (D014389)
..Varicocele (D014646)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5790
Name:	Infertility
Definition:	Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
Alternative IDs:
ParentIDs:	MESH:D005831\|MESH:D005832
TreeNumbers:	C12.294.365 \|C13.351.500.365
Synonyms:	Reproductive Sterility \|Sterility \|Sterility, Reproductive \|Subfertility \|Sub-Fertility
Slim Mappings:	Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D007246 MeSH: D007246 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants