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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  
agnathia-otocephaly complex  
Aicardi-Goutieres syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
AMME complex 
autosomal dominant disease +   
autosomal dominant intellectual developmental disorder 22  
autosomal hemophilia A  
autosomal recessive disease +   
Axenfeld-Rieger syndrome type 2 
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
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 +   
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)
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 
combined oxidative phosphorylation deficiency 55  
congenital nystagmus 1  
Cri-du-Chat syndrome +   
Deafness-Infertility Syndrome  
distal 10q deletion syndrome  
distal arthrogryposis type 1C  
dopamine transporter deficiency syndrome +   
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Genoa Syndrome 
Gillespie syndrome  
glucose transporter type 1 deficiency syndrome +   
hereditary nonpolyposis colorectal cancer type 8  
hereditary spastic paraplegia 30 +   
holoprosencephaly 1  
Holoprosencephaly 10  
holoprosencephaly 11  
holoprosencephaly 12  
Holoprosencephaly 13, X-linked  
Holoprosencephaly 14  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 6 
holoprosencephaly 7  
holoprosencephaly 8 
holoprosencephaly 9  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holoprosencephaly, Recurrent Infections, and Monocytosis 
Homozygous 11p15-p14 Deletion Syndrome 
hypoparathyroidism-deafness-renal disease syndrome  
hypophosphatasia +   
hypotonia-cystinuria syndrome  
Jacobsen Syndrome +   
Kleefstra syndrome 1  
Koolen de Vries syndrome  
Lambotte Syndrome 
McCune Albright syndrome  
Microgastria Limb Reduction Defect 
Miller-Dieker lissencephaly syndrome  
Monosomy 7 Myelodysplasia and Leukemia Syndrome +   
Nablus Mask-Like Facial Syndrome 
neurodevelopmental disorder with hypotonia and speech delay  
NFIA-related disorder  
Nonsyndromic Holoprosencephaly 
Otodental Dysplasia 
Phelan-McDermid syndrome  
posterior amorphous corneal dystrophy 
Potocki-Shaffer syndrome  
Pseudotrisomy 13 Syndrome  
retinitis pigmentosa 86  
Robinow syndrome +   
Rubinstein-Taybi syndrome +   
SATB2-associated syndrome  
septooptic dysplasia +   
Smith-Magenis syndrome +   
Sotos syndrome +   
spondylocostal dysostosis 5  
Steinfeld Syndrome 
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8 
thrombocytopenia-absent radius syndrome  
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   
Williams-Beuren syndrome +   
Wolf-Hirschhorn syndrome  
X-linked Microhydranencephaly  
Y-linked spermatogenic failure 1 

Synonyms
Exact Synonyms: 1q41-q42 microdeletion syndrome ;   1q41q42 microdeletion syndrome
Xrefs: GARD:3738 ;   MIM:612530 ;   MONDO:0012927 ;   ORDO:250999
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/16736036/ "DO" "DO"

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