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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Congenital Abnormalities +     
genetic disease +     
Abnormalities, Drug-Induced +   
Abnormalities, Severe Teratoid +   
Absence of Nasal Bones 
Absence of Vagina 
Accessory Pancreas 
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Agenesis of Gallbladder  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome  
Alpha-2-Deficient Collagen Disease 
Amastia +   
Aquaporin 1 Deficiency  
Arrhinia 
ataxic cerebral palsy 
Atlanto-Axial Fusion 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
Bresheck/Bresek Syndrome 
CADASIL +   
CAKUT2  
Cardiovascular Abnormalities +   
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Caudal Duplication Anomaly  
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. (DO)
Complete Absence of Bile and Pancreatic Ducts 
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Aural Atresia  
congenital diaphragmatic hernia +   
Congenital Hepatic Fibrosis  
Congenital Microtia +   
Congenital Pain Insensitivity +   
Congenital Stridor 
Crane-Heise Syndrome 
Deal Barratt Dillon Syndrome 
desquamative interstitial pneumonia  
Digestive System Abnormalities +   
Dwarfism +   
Eye Abnormalities +   
Familial Cirrhosis +   
Familial Cryptotia 
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Laryngeal Web 
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis 3  
frontotemporal dementia and/or amyotrophic lateral sclerosis 4  
Genetic Skin Diseases +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
Laryngeal Cleft 
Lymphatic Abnormalities +   
Marfan syndrome +   
Mayer-Rokitansky-Kuster-Hauser syndrome +   
Mondini Dysplasia  
monogenic disease +   
Multiple Abnormalities +   
Musculoskeletal Abnormalities +   
Nervous System Heredodegenerative Disorders +   
Nervous System Malformations +   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
Pancreas Agenesis, Dorsal 
polygenic disease +   
Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Radiation-Induced Abnormalities 
Renal and Mullerian Duct Hypoplasia +   
Respiratory System Abnormalities +   
Rhiny 
Sacral Agenesis with Vertebral Anomalies  
Saito Kuba Tsuruta Syndrome 
Schlegelberger Grote Syndrome 
situs inversus 
Skin Abnormalities +   
Sprengel Deformity  
Stomatognathic System Abnormalities +   
thyroid malformation +   
Urogenital Abnormalities +   
Zaki syndrome  

Synonyms
Exact Synonyms: Autosomal Chromosome Disorder ;   Chromosomal Disorder ;   Chromosome Abnormality Disorder ;   Chromosome Abnormality Disorders ;   autosomal chromosome disorders ;   chromosomal disorders ;   chromosome disorder ;   chromosome disorders
Xrefs: EFO:0003831 ;   MESH:D025063 ;   MONDO:0019040
Definition Sources: http://en.wikipedia.org/wiki/Chromosome_abnormality "DO" "DO", https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet "DO" "DO"

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