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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Infertility, Male (D007248)
..Starting node ..Sertoli Cell-Only Syndrome (D054331)
Child Nodes:
........Sertoli Cell-Only Syndrome, Type II (C564032)
........Sertoli cell-only syndrome, Y-linked (C537587)
Sister Nodes:
..Aromatase deficiency (C537436)
..Aspermia (D053714)
..Asthenozoospermia (D053627) 1
..Azoospermia (D053713) 4
..Catsper1-Related Nonsyndromic Male Infertility (C579978)
..Deafness, Sensorineural, And Male Infertility (C567010)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa (C562903)
..Oligospermia (D009845) 3
..Oligosynaptic Infertility (C562902)
..Sertoli Cell-Only Syndrome (D054331) 2
..SPERMATOGENIC FAILURE 2 (OMIM:108420)
..SPERMATOGENIC FAILURE 6 (OMIM:102530)
..Spermatogenic Failure, Nonobstructive, Y-Linked (C564030)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10139

Name:

Sertoli Cell-Only Syndrome

Definition:

A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement.

Alternative IDs:

OMIM:305700

ParentIDs:

MESH:D007248

TreeNumbers:

C12.294.365.700.754

Synonyms:

Slim Mappings:

Urogenital disease (male)

Reference:

MedGen: D054331
MeSH: D054331
OMIM: 305700;

Genes:

Phenotypes

1	HP:0000765	Abnormal thorax morphology
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0000771	Gynecomastia
4	HP:0001513	Obesity

Disease Causing ClinVar Variants