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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
Abnormalities, Drug-Induced +   
Abnormalities, Radiation-Induced 
Abnormalities, Severe Teratoid +   
Abnormalities, Urinary Tract +   
Absence of Vagina 
Accessory Pancreas 
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome 
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Amastia +   
AQUAPORIN 1 DEFICIENCY  
Arrhinia 
ataxia telangiectasia +   
ataxic cerebral palsy 
Atlanto-Axial Fusion 
atrial heart septal defect 3  
atrial heart septal defect 4  
Aural Atresia, Congenital  
autoimmune lymphoproliferative syndrome +   
Bile and Pancreatic Ducts, Complete Absence of 
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 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Caudal Duplication Anomaly  
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
cherubism +   
chromosomal disease +   
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
complement factor I deficiency  
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  
complex cortical dysplasia with other brain malformations 7  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
Congenital Microtia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
Congenital Stridor 
corneal opacification and other ocular anomalies +   
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 Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
FTDALS3  
FTDALS4  
Gallbladder, Agenesis Of 
Genetic Skin Diseases +   
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hyperimmunoglobulin syndrome +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
inherited blood coagulation disease +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kartagener syndrome  
Laminopathies  
Laryngeal Cleft 
Laryngeal Web, Familial 
Lennox-Gastaut syndrome  
Lymphatic Abnormalities +   
Marfan syndrome +   
Mondini Dysplasia  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Mullerian Aplasia  
Multiple Abnormalities +   
Musculoskeletal Abnormalities +   
Nasal Bones, Absence of 
Nervous System Heredodegenerative Disorders +   
Nervous System Malformations +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Pancreas Agenesis, Dorsal 
Parotidomegaly, Hereditary Bilateral 
Patterson Stevenson Syndrome +   
platelet-type bleeding disorder 10  
polycystic kidney disease +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
pulmonary alveolar microlithiasis  
RASopathies  
Renal and Mullerian Duct Hypoplasia +   
Respiratory System Abnormalities +   
Rh deficiency syndrome  
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 +   
Vertebral Fusion Posterior Lumbosacral Blepharoptosis 
yellow nail syndrome +  
 Down syndrome +   
 Sotos syndrome +   
 WAGR syndrome +   

Synonyms
Exact Synonyms: Autosomal Chromosome Disorder ;   Autosomal Chromosome Disorders ;   Chromosomal Disorder ;   Chromosomal Disorders ;   Chromosome Abnormality Disorder ;   Chromosome Abnormality Disorders ;   Chromosome Disorder ;   Chromosome Disorders
Primary IDs: MESH:D025063 ;   RDO:0000327
Definition Sources: MESH:D025063, http://en.wikipedia.org/wiki/Chromosome_abnormality, http://www.genome.gov/11508982#al-5, http://www.rarechromo.org/html/chromosomesanddisorders.asp

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