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: male reproductive system disease (MONDO:0003150)
..Starting node ..spermatocele ()
Child Nodes:
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:	6977
Name:	spermatocele
Definition:	A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.
Alternative IDs:
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Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SYNGAP1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal