MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: infertility disorder (MONDO:0005047)
Parent Node: male reproductive system disease (MONDO:0003150)
..Starting node ..male infertility ()
Child Nodes:
........acquired testicular failure ()
........azoospermia ()
........infertility due to extratesticular cause ()
........male infertility due to gonadal dysgenesis or sperm disorder ()
........male infertility due to obstructive azoospermia ()
........oligospermia ()
........rare idiopathic male infertility ()
........rare male infertility due to hypothalamic-pituitary-gonadal axis disorder ()
........Y chromosome infertility due to DAZ1 deletion ()
Sister Nodes:
..benign male reproductive system neoplasm ()
..cryptorchidism (disease) ()
..epididymitis (disease) ()
..fournier gangrene ()
..genital herpes ()
..hematocele of tunica vaginalis testis ()
..hydrocele ()
..male genital organ stricture ()
..male genital organ vascular disease ()
..male infertility ()
..male reproductive system neoplasm ()
..non-syndromic urogenital tract malformation of male ()
..penile disease ()
..prostate disease ()
..scrotal disease ()
..spermatocele ()
..teratozoospermia ()
..testicular disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5372
Name:	male infertility
Definition:	The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	infertility disorder of male reproductive system; male reproductive system infertility; male reproductive system infertility disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: FTL;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal