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:
expandChromosome Deletion (D002872)
Parent Node:
expandChromosome Disorders (D025063)
..Starting node
..expandChromosome 18p deletion syndrome (C538309)

       Child Nodes:



 Sister Nodes: 
..expand10p Deletion Syndrome (Partial) (C538288)
..expand13q deletion syndrome (C535484) Child1
..expand15q24 Microdeletion (C579849)
..expand16p11.2 Deletion Syndrome (C579850)
..expand22q11 Deletion Syndrome (D058165) Child5
..expand6q+ Syndrome, Partial (C537810)
..expand7p2 monosomy syndrome (C537818)
..expand9q22.3 Microdeletion (C579873)
..expandAngelman Syndrome (D017204) Child1
..expandBeckwith-Wiedemann Syndrome (D001506) Child1
..expandBranchio-Oto-Renal Syndrome (D019280) Child5
..expandChromosome 10q duplication syndrome (C537804)
..expandChromosome 13q-mosaicism (C535486)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandChromosome 17p13.3 Duplication Syndrome (C567705)
..expandChromosome 18 deletion syndrome (C536580)
..expandChromosome 18p deletion syndrome (C538309)
..expandChromosome 19q13.11 Deletion Syndrome (C567810)
..expandChromosome 1p36 Deletion Syndrome (C535362)
..expandChromosome 22, monosome mosaic (C536798)
..expandChromosome 3 duplication syndrome (C536803)
..expandChromosome 3q29 Duplication Syndrome (C567626)
..expandChromosome 4, 4q Terminal Deletion Syndrome (C537641)
..expandChromosome 4q- Syndrome (C537639)
..expandChromosome 5p13 Duplication Syndrome (C567717)
..expandChromosome 6 ring syndrome (C537763)
..expandChromosome 7 ring syndrome (C537813)
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandContiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..expandCri-du-Chat Syndrome (D003410) Child6
..expandDe Lange Syndrome (D003635) Child1
..expandDelayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..expandDeletion 13q syndrome, partial (C535449)
..expandDistal Trisomy 10q Syndrome (C538087)
..expandDown Syndrome (D004314) Child6
..expandDuplication 4p Syndrome (C537643)
..expandEdinburgh Malformation Syndrome (C563051)
..expandEmanuel syndrome (C535733)
..expandFragile Site 16p12 (C565001)
..expandHoloprosencephaly (D016142) Child22
..expandIsodicentric Chromosome 15 Syndrome (C580205)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandMental Retardation, Fra12a Type (C566980)
..expandMonosomy 7 of Bone Marrow (C565370)
..expandMosaic variegated aneuploidy syndrome (C536987)
..expandNF1 Microduplication Syndrome (C567173)
..expandOtodental Dysplasia (C563482)
..expandPallister Killian syndrome (C538105)
..expandPartial Duplication 15q Syndrome (C538036)
..expandPartial Trisomy 3q Syndrome (C537635)
..expandPatau syndrome (C536305)
..expandPotocki-Shaffer syndrome (C538356)
..expandPrader-Willi Syndrome (D011218) Child2
..expandRecombinant chromosome 8 syndrome (C535296)
..expandRing chromosome 4 syndrome (C537636)
..expandRubinstein-Taybi Syndrome (D012415) Child2
..expandSchmid-Fraccaro syndrome (C535918)
..expandSex Chromosome Disorders (D025064) Child32
..expandSilver-Russell Syndrome (D056730) Child1
..expandSmith-Magenis Syndrome (D058496) Child1
..expandSotos Syndrome (D058495) Child1
..expandTelomeric 22q13 Monosomy Syndrome (C536801)
..expandThrombocytopenia chromosome breakage (C536519)
..expandTrisomy 18-Like Syndrome (C563382)
..expandTrisomy 22 mosaicism syndrome (C536796)
..expandWAGR Syndrome (D017624) Child2
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWilliams Syndrome (D018980) Child1
..expandWolf-Hirschhorn Syndrome (D054877)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2233
Name:Chromosome 18p deletion syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002872|MESH:D025063
TreeNumbers:C16.131.260/C538309 |C16.320.180/C538309 |C23.550.210.050.500.500/C538309
Synonyms:18p deletion syndrome |18p minus syndrome |18p- syndrome |Del(18p) syndrome |Deletion 18p syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Pathology (process)
Reference: MedGen: C538309
MeSH: C538309
OMIM: 146390;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000463Anteverted nares
3 HP:0030084Clinodactyly
4 HP:0000028Cryptorchidism
5 HP:0008734Decreased testicular size
6 HP:0001332Dystonia
7 HP:0001263Global developmental delay
8 HP:0000133Gonadal dysgenesis
9 HP:0000218High palate
10 HP:0000316Hypertelorism
11 HP:0001249Intellectual disability
12 HP:0000400Macrotia
13 HP:0000347Micrognathia
14 HP:0000054Micropenis
15 HP:0009466Radial deviation of finger
16 HP:0005989Redundant neck skin
17 HP:0000311Round face
18 HP:0004322Short stature
19 HP:0001518Small for gestational age
20 HP:0003745Sporadic
21 HP:0000692Tooth malposition
22 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants