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Term:
Sacral Agenesis with Vertebral Anomalies (DOID:9004975)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Absent Patella 
acromesomelic dysplasia, Grebe type  
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  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Antecubital Pterygium 
Aquaporin 1 Deficiency  
Arthrogryposis +   
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
campomelic dysplasia +   
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  
Cenani-Lenz syndactyly syndrome  
Cervical Rib Syndrome +  
CHARGE syndrome  
cherubism +   
chromosomal disease +   
CLOVES syndrome  
Cohen-Gibson Syndrome  
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 Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
Congenital Hip Dislocation +   
congenital hypoplastic anemia +   
Congenital Limb Deformities +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
Craniofacial Abnormalities +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
FTDALS3  
FTDALS4  
Funnel Chest +   
gastroschisis +   
Genetic Skin Diseases +   
Hajdu-Cheney syndrome  
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hyperimmunoglobulin syndrome +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
inherited blood coagulation disease +   
inherited metabolic disorder +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Iridogoniodysgenesis and Skeletal Anomalies 
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kartagener syndrome  
Kleefstra Syndrome 2  
Klippel-Feil syndrome +   
Laminopathies  
Laryngomalacia +   
Lennox-Gastaut syndrome  
Marfan syndrome +   
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Parotidomegaly, Hereditary Bilateral 
Pectus Carinatum  
platelet-type bleeding disorder 10  
polycystic kidney disease +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Pseudoarthrogryposis 
pulmonary alveolar microlithiasis  
RASopathies  
Rh deficiency syndrome  
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Steel Syndrome  
Sternal Cleft 
synostosis +   
Tracheobronchomalacia +   
Widow's Peak Syndrome 
yellow nail syndrome +  
ZTTK Syndrome  

Synonyms
Exact Synonyms: SAVA
Primary IDs: OMIM:615709 ;   RDO:9001035

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