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lethal congenital contracture syndrome 3 (DOID:0060653)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Allan-Herndon-Dudley syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
Arnold Stickler Bourne Syndrome 
Axial Mesodermal Dysplasia Spectrum 
Bethlem myopathy +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Bowen Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
congenital contractural arachnodactyly  
Congenital Contractures, Torticollis, and Malignant Hyperthermia 
Congenital Ectodermal Dysplasia with Hearing Loss 
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes +   
Davenport Donlan Syndrome 
Dupuytren Contracture +  
Dystonia with Ringbinden 
Erosive Arthropathy 
Facial Dysmorphism with Multiple Malformations +   
Furukawa Takagi Nakao Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 18  
Hip Contracture  
histiocytosis-lymphadenopathy plus syndrome  
Iida Kannari Syndrome 
lethal congenital contracture syndrome 1  
Lethal Congenital Contracture Syndrome 10  
Lethal Congenital Contracture Syndrome 11  
lethal congenital contracture syndrome 2  
lethal congenital contracture syndrome 3  
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)
lethal congenital contracture syndrome 4  
Lethal Congenital Contracture Syndrome 5  
Lethal Congenital Contracture Syndrome 6  
Lethal Congenital Contracture Syndrome 7  
Lethal Congenital Contracture Syndrome 8  
Lethal Congenital Contracture Syndrome 9  
lethal restrictive dermopathy  
Macleod Fraser syndrome 
Malignant Neurogenic Muscular Atrophy 
Marden-Walker Syndrome  
Mental Retardation Mietens Weber Type 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Miles-Carpenter syndrome +   
Miyoshi muscular dystrophy +   
Multiple Pterygium Syndrome, X-Linked 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Nathalie Syndrome 
plantar fascial fibromatosis 
Primrose Syndrome  
proximal myopathy and ophthalmoplegia  
Rozin Hertz Goodman Syndrome 
Spondylospinal Thoracic Dysostosis 
stiff skin syndrome  
Thakker Donnai Syndrome 
Van den Ende-Gupta syndrome  
Volkmann contracture 
Warburg-Cinotti Syndrome  
Winchester syndrome  
Winter Harding Hyde Syndrome 
X-linked Emery-Dreifuss muscular dystrophy 1  

Exact Synonyms: LCCS3 ;   multiple contractural syndrome, Israeli Bedouin type B ;   multiple contracture syndrome, Israeli Bedouin type B
Primary IDs: MESH:C566961
Alternate IDs: OMIM:611369 ;   RDO:0015162
Xrefs: ORDO:137783
Definition Sources: "DO"

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