Ontology Browser

Term:
Potocki-Shaffer Syndrome (DOID:9006847)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0)
Parent Terms Term With Siblings Child Terms
10p Deletion Syndrome (partial) 
16p11.2 Deletion Syndrome  
22q11 Deletion Syndrome +   
3p- syndrome 
chondrodysplasia Blomstrand type  
chromosome 10q23 deletion syndrome  
Chromosome 11p Deletion Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 14q11-q22 deletion syndrome 
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 16p11.2 deletion syndrome, 220kb 
chromosome 16p12.1 deletion syndrome, 520kb 
chromosome 16p12.2-p11.2 deletion syndrome 
chromosome 16q22 deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
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 1p32-p31 deletion syndrome  
chromosome 1p36 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 1q41-q42 deletion syndrome +   
chromosome 22q11.2 deletion syndrome, distal 
chromosome 2p12-p11.2 deletion syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 3q13.31 deletion syndrome 
chromosome 3q29 microdeletion syndrome 
chromosome 4q21 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 
Cri-du-Chat syndrome +   
Dermochondrocorneal Dystrophy of Fran├žois 
distal 10q deletion syndrome 
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 
Exostoses of Heel 
hypoparathyroidism-deafness-renal disease syndrome  
Intestinal Polyposis, with Multiple Exostoses 
Jacobsen Distal 11q Deletion Syndrome +  
Kniest Like Dysplasia Lethal  
Koolen de Vries syndrome  
Metachondromatosis  
Metaphyseal Acroscyphodysplasia 
Miller-Dieker lissencephaly syndrome  
Multiple Exostoses Type I  
Multiple Exostoses Type II  
Multiple Exostoses Type III 
Multiple Exostoses with Spastic Tetraparesis 
Phelan-McDermid syndrome  
Potocki-Shaffer Syndrome 
Smith-Magenis syndrome +   
Stuve-Wiedemann Syndrome  
thrombocytopenia-absent radius syndrome  
WAGR syndrome +   
Williams-Beuren syndrome +   
Wolf-Hirschhorn syndrome  

Synonyms
Exact Synonyms: P11PDS ;   PSS ;   chromosome 11p11.2 deletion syndrome ;   defect11 syndrome ;   deletion of chromosome 11p11.2 ;   proximal 11P deletion syndrome
Primary IDs: MESH:C538356
Alternate IDs: OMIM:601224 ;   RDO:0004326

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.