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Term:
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
Contracture
+
lethal congenital contracture syndrome
+
muscular atrophy
+
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 OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
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
Sarcopenia
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
Synonyms
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:
https://www.ncbi.nlm.nih.gov/pubmed/17701898
"DO"