Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

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 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Antecubital Pterygium 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
Arthrogryposis +   
aspartylglucosaminuria  
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 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
Cervical Rib Syndrome +  
CHARGE syndrome  
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 HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
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 +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Funnel Chest +   
gastroschisis +   
Genetic Skin Diseases +   
Hajdu-Cheney syndrome  
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
inherited metabolic disorder +   
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Iridogoniodysgenesis and Skeletal Anomalies 
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
Laminopathies  
Laryngomalacia +   
Lennox-Gastaut syndrome  
Marfan syndrome +   
Microcephaly, Short Stature, and Limb Abnormalities  
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Pectus Carinatum  
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Pseudoarthrogryposis 
pulmonary alveolar microlithiasis  
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

paths to the root

NHLBI Logo

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