Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Monosomy (D009006)
..Starting node
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Chromosome Deletion (D002872)

       Child Nodes:
........expand10p Deletion Syndrome (Partial) (C538288)
........expand13q deletion syndrome (C535484) Child1
........expand15q24 Microdeletion (C579849)
........expand16p11.2 Deletion Syndrome (C579850)
........expand5q- syndrome (C535323)
........expand7p2 monosomy syndrome (C537818)
........expandChromosome 1, deletion q21 q25 (C535363)
........expandChromosome 1, monosomy 1p (C535591)
........expandChromosome 1, monosomy 1p22 p13 (C535592)
........expandChromosome 1, monosomy 1p31 p22 (C535593)
........expandChromosome 1, monosomy 1p32 (C535594)
........expandChromosome 1, monosomy 1p34 p32 (C535595)
........expandChromosome 1, monosomy 1q25 q32 (C535596)
........expandChromosome 1, monosomy 1q32 q42 (C537671)
........expandChromosome 1, monosomy 1q4 (C537672)
........expandChromosome 10, monosomy 10q (C538289)
........expandChromosome 10q23 Deletion Syndrome (C567385)
........expandChromosome 10q26 Deletion Syndrome (C567182)
........expandChromosome 11, deletion 11p (C538293)
........expandChromosome 11p Deletion Syndrome (C541598)
........expandChromosome 11p, partial deletion (C538295)
........expandChromosome 11q partial deletion (C538296)
........expandChromosome 12p deletion (C538301)
........expandChromosome 12p partial deletion (C538302)
........expandChromosome 14q, partial deletions (C538031)
........expandChromosome 14q, terminal deletion (C538033)
........expandChromosome 15q, partial deletion (C538038)
........expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
........expandChromosome 17 deletion (C538045) Child1
........expandChromosome 17, deletion 17q23 q24 (C538047)
........expandChromosome 17q21.31 Deletion Syndrome (C566476)
........expandChromosome 18 deletion syndrome (C536580)
........expandChromosome 18, deletion 18q23 (C538305)
........expandChromosome 18p deletion syndrome (C538309)
........expandChromosome 19q13.11 Deletion Syndrome (C567810)
........expandChromosome 1p36 Deletion Syndrome (C535362)
........expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
........expandChromosome 1q21.1 Duplication Syndrome (C567290)
........expandChromosome 1q43-Q44 Deletion Syndrome (C567346)
........expandChromosome 2, monosomy 2p22 (C538313)
........expandChromosome 2, monosomy 2pter p24 (C538314)
........expandChromosome 2, monosomy 2q (C538315)
........expandChromosome 2, monosomy 2q24 (C538316)
........expandChromosome 20, deletion 20p (C535370)
........expandChromosome 21, monosomy 21q22 (C537110)
........expandChromosome 22, microdeletion 22 q11 (C536797)
........expandChromosome 22q11.2 Deletion Syndrome, Distal (C567511)
........expandChromosome 2p16.1-P15 Deletion Syndrome (C567289)
........expandChromosome 2q31.2 Deletion Syndrome (C567344)
........expandChromosome 2q32-Q33 Deletion Syndrome (C567350)
........expandChromosome 2q37 deletion syndrome (C538317) Child1
........expandChromosome 3, monosomy 3p (C536804)
........expandChromosome 3, monosomy 3p14 p11 (C536805)
........expandChromosome 3, monosomy 3p2 (C536806)
........expandChromosome 3, monosomy 3p25 (C536807)
........expandChromosome 3, monosomy 3q13 (C536808)
........expandChromosome 3, monosomy 3q21 23 (C536809)
........expandChromosome 3, monosomy 3q27 (C536810)
........expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
........expandChromosome 3q29 Deletion Syndrome (C567184)
........expandChromosome 4 short arm deletion (C537637)
........expandChromosome 4, 4q Terminal Deletion Syndrome (C537641)
........expandChromosome 4, monosomy 4p14 p16 (C537638)
........expandChromosome 4, monosomy 4q32 (C537640)
........expandChromosome 4q- Syndrome (C537639)
........expandChromosome 6, deletion 6q13 q15 (C537764)
........expandChromosome 6, monosomy 6p23 (C537765)
........expandChromosome 6, monosomy 6q (C537807)
........expandChromosome 6, monosomy 6q1 (C537808)
........expandChromosome 6, monosomy 6q2 (C537809)
........expandChromosome 6pter-P24 Deletion Syndrome (C567239)
........expandChromosome 7, monosomy (C537814)
........expandChromosome 7, monosomy 7q2 (C537815)
........expandChromosome 7, monosomy 7q21 (C537816)
........expandChromosome 7, monosomy 7q3 (C537817)
........expandCHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
........expandChromosome 8, monosomy 8p (C537825)
........expandChromosome 8, monosomy 8p23 1 (C537827)
........expandChromosome 8, monosomy 8q (C537828)
........expandChromosome 8p deletion syndrome (partial) (C537826)
........expandCHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
........expandChromosome 9, partial monosomy 9p (C538025)
........expandChromosome 9p Deletion Syndrome (C538024)
........expandDeafness, Sensorineural, And Male Infertility (C567010)
........expandDeletion 13q syndrome, partial (C535449)
........expandDeletion 6q16 q21 (C538207)
........expandFragile Site 16p12 (C565001)
........expandHoloprosencephaly 10 (C567278)
........expandHomozygous 11p15-p14 Deletion Syndrome (C564701)
........expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
........expandHypotonia-Cystinuria Syndrome (C564710)
........expandKleefstra Syndrome (C563043)
........expandMale sterility due to Y-chromosome deletions (C536297)
........expandMonosomy 7 of Bone Marrow (C565370)
........expandNF1 Microdeletion Syndrome (C563524)
........expandOtodental Dysplasia (C563482)
........expandPotocki-Shaffer syndrome (C538356)
........expandPrader-Willi-Like Syndrome Associated With Chromosome 6 (C566764)
........expandTelomeric 22q13 Monosomy Syndrome (C536801)
........expandX chromosome, monosomy Xp22 pter (C536754)
........expandX chromosome, monosomy Xq28 (C536755)



 Sister Nodes: 
..expandChromosome 18 mosaic monosomy (C536581)
..expandChromosome 21 monosomy (C537108)
..expandChromosome 8 deletion (C537823) Child1
..expandChromosome Deletion (D002872) Child104
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2365
Name:Chromosome Deletion
Definition:Actual loss of portion of a chromosome.
Alternative IDs:
ParentIDs:MESH:D009006
TreeNumbers:C23.550.210.050.500.500
Synonyms:Deletion, Chromosome |Deletions, Chromosome |Monosomies, Partial |Monosomy, Partial |Partial Monosomies |Partial Monosomy
Slim Mappings:Pathology (process)
Reference: MedGen: D002872
MeSH: D002872
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants