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, Male (D005832)
Parent Node: Gonadal Disorders (D006058)
..Starting node ..Testicular Diseases (D013733)
Child Nodes:
........Cryptorchidism (D003456) 12
........Orchitis (D009920)
........Sohval Soffer syndrome (C536679)
........Testicular Microlithiasis (C566478)
........Testicular Neoplasms (D013736) 11
Sister Nodes:
..Disorders of Sex Development (D012734) 107
..Female Athlete Triad Syndrome (D053716)
..Hypogonadism (D007006) 62
..Ovarian Diseases (D010049) 51
..Puberty, Delayed (D011628) 1
..Puberty, Precocious (D011629) 8
..Testicular Diseases (D013733) 28
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10932
Name:	Testicular Diseases
Definition:	Pathological processes of the TESTIS.
Alternative IDs:
ParentIDs:	MESH:D005832\|MESH:D006058
TreeNumbers:	C12.294.829 \|C19.391.829
Synonyms:	Diseases, Testicular \|Disease, Testicular \|Testicular Disease
Slim Mappings:	Endocrine system disease\|Urogenital disease (male)
Reference:	MedGen: D013733 MeSH: D013733 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants