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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: Testicular Diseases (D013733)
..Starting node ..Sohval Soffer syndrome (C536679)
Child Nodes:
Sister Nodes:
..Cryptorchidism (D003456) 12
..Orchitis (D009920)
..Sohval Soffer syndrome (C536679)
..Testicular Microlithiasis (C566478)
..Testicular Neoplasms (D013736) 11
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10340
Name:	Sohval Soffer syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D013733
TreeNumbers:	C12.294.829/C536679 \|C19.391.829/C536679
Synonyms:	Congenital testicular deficiency
Slim Mappings:	Endocrine system disease\|Urogenital disease (male)
Reference:	MedGen: C536679 MeSH: C536679 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants