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Ontology Browser

Term:
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (DOID:9006296)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (0) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Hearing Loss +     
Kyphoscoliosis +     
muscular disease +     
Anal Sphincter Myopathy, Internal 
Arthrogryposis +   
atrophic muscular disease +   
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Behr syndrome  
Bilateral Hearing Loss +   
Branchial Arch Syndrome X-Linked 
brittle cornea syndrome +   
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cardiac Valvular Dysplasia, X-Linked  
Carey-Fineman-Ziter syndrome  
chromosome 6pter-p24 deletion syndrome 
chronic fatigue syndrome  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
compartment syndrome +   
Conductive Hearing Loss +   
Cone-Rod Dystrophy and Hearing Loss +   
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Craniomandibular Disorders +   
Deafness +   
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness-Craniofacial Syndrome 
diaphragm disease +   
Dimauro Disease  
Early-Onset Myopathy with Fatal Cardiomyopathy  
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency  
Ehlers-Danlos syndrome progeroid type +   
Ehlers-Danlos Syndrome Type 4 +   
Ehlers-Danlos Syndrome Type 6 +   
Ehlers-Danlos Syndrome Type 7 +   
Ehlers-Danlos Syndrome Type 8  
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 
Ehlers-Danlos Syndrome, Beasley Cohen Type 
Ehlers-Danlos Syndrome, Cardiac Valvular Form  
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2  
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Ehlers-Danlos Syndrome, Musculocontractural Type 1  
Ehlers-Danlos Syndrome, Musculocontractural Type 2  
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2  
eosinophilia-myalgia syndrome  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Functional Hearing Loss 
Gamstorp-Wohlfart syndrome  
Hearing Loss, Mixed Conductive-Sensorineural +  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
Hernandez Aguirre-Negrete Syndrome 
High-Frequency Hearing Loss  
Hypertrophia Musculorum Vera 
Iris Dysplasia Hypertelorism Deafness 
Kocher-Debre-Semelaigne Syndrome 
LADD syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microtia, Hearing Impairment, and Cleft Palate  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
MYOPATHY, SCAPULOHUMEROPERONEAL  
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
Myotoxicity 
neutral lipid storage disease +   
occipital horn syndrome  
OI/EDS Combined Syndrome  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
polymyalgia rheumatica  
Proximal Myopathy with Focal Depletion of Mitochondria 
Reardon Wilson Cavanagh Syndrome 
Rhabdomyolysis +   
sensorineural hearing loss +   
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
syndromic X-linked intellectual disability Abidi type 
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
type I Ehlers-Danlos syndrome  
type II Ehlers-Danlos Syndrome  
type III Ehlers-Danlos syndrome  
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Unilateral Deafness with Delayed Endolymphatic Hydrops  
Unilateral Hearing Loss +   
Uruguay Faciocardiomusculoskeletal Syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  

Synonyms
Exact Synonyms: EDSKMH ;   EDSKSCL2 ;   Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Primary IDs: OMIM:614557 ;   RDO:9000285

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