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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
10p Deletion Syndrome (partial) 
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3p deletion syndrome  
46,XY sex reversal 10  
46,XY sex reversal 4  
alpha thalassemia-intellectual disability syndrome type 1 
AMME complex 
autosomal dominant intellectual developmental disorder 22  
Axenfeld-Rieger syndrome type 2 
chromosome 10q23 deletion syndrome  
Chromosome 11p Deletion Syndrome  
Chromosome 13q Deletion Syndrome +   
chromosome 13q14 deletion syndrome  
Chromosome 13q33-q34 Deletion Syndrome 
chromosome 14q11-q22 deletion syndrome 
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
Chromosome 15q14 Deletion Syndrome 
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome, 220-kb  
chromosome 16p11.2 deletion syndrome, 593-kb  
chromosome 16p12.1 deletion syndrome  
chromosome 16p12.2-p11.2 deletion syndrome 
chromosome 16q22 deletion syndrome  
Chromosome 17 Deletion  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
chromosome 17q12 deletion syndrome  
chromosome 17q23.1-q23.2 deletion syndrome 
chromosome 18p deletion syndrome  
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 1p36 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 1q41-q42 deletion syndrome +   
chromosome 2p12-p11.2 deletion syndrome 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 2q37 deletion syndrome  
chromosome 3q13.31 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
chromosome 4q21 deletion syndrome  
chromosome 5q deletion syndrome  
chromosome 5q12 deletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome 6q11-q14 deletion syndrome 
chromosome 6q24-q25 deletion syndrome  
chromosome 8q21.11 deletion syndrome 
chromosome 9p deletion syndrome  
chromosome Xp21 deletion syndrome 
Chromosome Xq21 Deletion Syndrome 
Cri-du-Chat syndrome +   
distal 10q deletion syndrome  
hereditary nonpolyposis colorectal cancer type 8  
Homozygous 11p15-p14 Deletion Syndrome 
hypoparathyroidism-deafness-renal disease syndrome  
hypotonia-cystinuria syndrome  
Jacobsen Syndrome +   
Kleefstra syndrome 1  
Koolen de Vries syndrome  
Miller-Dieker lissencephaly syndrome  
Monosomy 7 Myelodysplasia and Leukemia Syndrome +   
Nablus Mask-Like Facial Syndrome 
NFIA-related disorder  
Otodental Dysplasia 
Phelan-McDermid syndrome  
A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)
posterior amorphous corneal dystrophy 
Potocki-Shaffer syndrome  
Rubinstein-Taybi syndrome +   
SATB2-associated syndrome  
Sensorineural Deafness and Male Infertility  
Smith-Magenis syndrome +   
thrombocytopenia-absent radius syndrome  
WAGR syndrome +   
Williams-Beuren syndrome +   
Wolf-Hirschhorn syndrome  
Y-linked spermatogenic failure 1 

Synonyms
Exact Synonyms: 22q13 deletion syndrome ;   22q13.3 deletion syndrome ;   PHMDS ;   chromosome 22q13.3 deletion syndrome ;   monosomy 22q13 ;   monosomy 22q13 syndrome ;   telomeric 22q13 monosomy syndrome
Broad Synonyms: SHANK3-RELATED CONDITION ;   SHANK3-related disorder
Primary IDs: MESH:C536801
Alternate IDs: OMIM:606232
Xrefs: GARD:10130 ;   NCI:C157124 ;   ORDO:48652
Definition Sources: https://en.wikipedia.org/wiki/22q13_deletion_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1198/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29719671 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29896732 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30089781 "DO" "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652 "DO" "DO"

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