| Disease Browser
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Parent Node:
 Chromosome Deletion (D002872) | Parent Node:
Hearing Loss, Sensorineural (D006319) | Parent Node:
Infertility, Male (D007248) | ..Starting node
.. Deafness, Sensorineural, And Male Infertility (C567010)
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Child Nodes:
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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)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 3123 |
| Name: | Deafness, Sensorineural, And Male Infertility |
| Definition: | |
| Alternative IDs: | OMIM:611102 |
| ParentIDs: | MESH:D002872|MESH:D006319|MESH:D007248 |
| TreeNumbers: | C09.218.458.341.887/C567010 |C10.597.751.418.341.887/C567010 |C12.294.365.700/C567010 |C23.550.210.050.500.500/C567010 |C23.888.592.763.393.341.887/C567010 |
| Synonyms: | Chromosome 15q15.3 Deletion Syndrome |Deafness-Infertility Syndrome |Sensorineural Deafness and Male Infertility |
| Slim Mappings: | Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (male) |
| Reference: |
MedGen: C567010
MeSH: C567010
OMIM: 611102;
Genes: AF8T; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_172095.2(CATSPER2):c.(?_718)-34_(843_?)-857del | -1 | - | Pathogenic | -1 | RCV000150233; | N | Gene:100240731,MedGen:C1970187,OMIM:611102,ORPHA:94064 | 15 | 43929274 | 43931260 | NM_172095.2:c.(?_718)-34_(843_?)-857del | | | - | C1970187 611102 Deafness-infertility syndrome | | |
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