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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandChromosome Deletion (D002872)
Parent Node:
expandDiGeorge Syndrome (D004062)
..Starting node
..expandChromosome 22q11.2 Deletion Syndrome, Distal (C567511)

       Child Nodes:



 Sister Nodes: 
..expandChromosome 22q11.2 Deletion Syndrome, Distal (C567511)
..expandChromosome 22q11.2 Microduplication Syndrome (C567224)
..expandDigeorge Syndrome/Velocardiofacial Syndrome Complex 2 (C563337)
..expandTakao VCF Syndrome (C566051)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2272
Name:Chromosome 22q11.2 Deletion Syndrome, Distal
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002872|MESH:D004062
TreeNumbers:C05.660.207.103.500/C567511 |C14.240.400.021.500/C567511 |C14.280.400.044.500/C567511 |C15.604.451.249.500/C567511 |C16.131.077.019.500/C567511 |C16.131.077/C567511 |C16.131.240.400.021.500/C567511 |C16.131.260.019.500/C567511 |C16.131.482.249.500/C567511 |C16.13
Synonyms:Distal Chromosome 22q11.2 Deletion Syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C567511
MeSH: C567511
OMIM: 611867;

Genes: AF8T;
Phenotypes
1 HP:0000708Behavioral abnormalityHP:0040284
2 HP:0000175Cleft palateHP:0040284
3 HP:0000490Deeply set eyeHP:0040284
4 HP:0001263Global developmental delayHP:0040284
5 HP:0002553Highly arched eyebrowHP:0040284
6 HP:0001511Intrauterine growth retardationHP:0040284
7 HP:0000272Malar flatteningHP:0040282
8 HP:0000307Pointed chinHP:0040284
9 HP:0004322Short statureHP:0040282
10 HP:0000319Smooth philtrumHP:0040284
11 HP:0000219Thin upper lip vermilionHP:0040282
12 HP:0001660Truncus arteriosusHP:0040284
13 HP:0000430Underdeveloped nasal alaeHP:0040284
Disease Causing ClinVar Variants