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Term:
chromosome 1q41-q42 deletion syndrome
(DOID:0060412)
Annotations:
Rat: (2)
Mouse: (2)
Human: (2)
Chinchilla: (2)
Bonobo: (2)
Dog: (2)
Squirrel: (2)
Pig: (2)
Naked Mole-rat: (2)
Green Monkey: (2)
Parent Terms
Term With Siblings
Child Terms
autosomal genetic disease
+
chromosomal deletion syndrome
+
holoprosencephaly
+
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
Holoprosencephaly 10
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"