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Ontology Browser
Term:
neurogenic-type arthrogryposis multiplex congenita-2 (DOID:0090124)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
ARC syndrome +   
Arthrogryposis and Ectodermal Dysplasia  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
arthrogryposis multiplex congenita-1  
arthrogryposis multiplex congenita-3  
arthrogryposis multiplex congenita-4  
arthrogryposis multiplex congenita-5  
arthrogryposis multiplex congenita-6  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Impaired Intellectual Development, and Seizures  
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Arthrogryposis, X-Linked, Type V 
Boylan Dew Greco Syndrome 
Bruck syndrome +   
Camptodactyly-Ichthyosis Syndrome 
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Congenital Arthrogryposis with Anterior Horn Cell Disease  
Congenital Neuropathy with Arthrogryposis Multiplex 
Cyprus Facial Neuromusculoskeletal Syndrome 
distal arthrogryposis +   
Ehlers-Danlos syndrome musculocontractural type 2  
fetal akinesia deformation sequence syndrome +   
German Syndrome 
hereditary neuropathy with liability to pressure palsies  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
Jequier Kozlowski Skeletal Dysplasia 
Johnston Aarons Schelley Syndrome 
Ladda Zonana Ramer Syndrome 
lethal congenital contracture syndrome +   
Massa Casaer Ceulemans Syndrome 
Minicore Myopathy, Antenatal Onset, with Arthrogryposis 
Multiple Pterygium Syndrome, Lethal Type +   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
neurogenic-type arthrogryposis multiplex congenita-2  
An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. (DO)
Pelvic Dysplasia Arthrogryposis of Lower Limbs 
Podder-Tolmie Syndrome 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  
Ray Peterson Scott Syndrome 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spranger Schinzel Myers Syndrome 
Ventriculomegaly and Arthrogryposis  
X-linked Microhydranencephaly  

Synonyms
Exact Synonyms: AMC, neurogenic type ;   AMC2 ;   AMCN ;   arthrogryposis multiplex congenita neurogenic type ;   neurogenic arthrogryposis multiplex congenita ;   neurogenic arthrogryposis multiplex congenita 2 ;   neurogenic type of AMC
Primary IDs: MESH:C536614
Alternate IDs: DOID:9006267 ;   OMIM:208100
Xrefs: ORDO:1143
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/28317099 "DO" "DO", https://www.omim.org/entry/208100 "DO" "DO"

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