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:
expand13q deletion syndrome (C535484)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandDiseases (C)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandRetinoblastoma (D012175)
..Starting node
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)

       Child Nodes:



 Sister Nodes: 
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..expandOsteosarcoma, Retinoblastoma-Related (C566714)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2199
Name:CHROMOSOME 13q14 DELETION SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:C535484|MESH:D002658|MESH:D008607|MESH:D012175|MESH:D019465
TreeNumbers:C04.557.465.625.600.725/613884 |C04.557.470.670.725/613884 |C04.557.580.625.600.725/613884 |C04.588.364.818.760/613884 |C05.660.207/613884 |C10.597.606.643/613884 |C11.319.475.760/613884 |C11.768.717.760/613884 |C16.131.260/C535484/613884 |C16.131.621.207/613884 |
Synonyms:CHROMOSOME 13q DELETION SYNDROME
Slim Mappings:Cancer|Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: 613884
MeSH: 613884
OMIM: 613884;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0040080Anteverted ears
3 HP:0000337Broad forehead
4 HP:0000414Bulbous nose
5 HP:0002002Deep philtrum
6 HP:0000750Delayed speech and language development
7 HP:0000268Dolichocephaly
8 HP:0000286Epicanthus
9 HP:0000232Everted lower lip vermilion
10 HP:0002007Frontal bossing
11 HP:0002079Hypoplasia of the corpus callosumHP:0040283
12 HP:0000601Hypotelorism
13 HP:0001249Intellectual disability
14 HP:0008936Muscular hypotonia of the trunk
15 HP:0009919Retinoblastoma
16 HP:0003745Sporadic
17 HP:0000219Thin upper lip vermilion
Disease Causing ClinVar Variants