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Term:
fetal akinesia deformation sequence syndrome (DOID:0111375)
Annotations: Rat: (43) Mouse: (43) Human: (44) Chinchilla: (43) Bonobo: (44) Dog: (44) Squirrel: (43) Pig: (43)
Parent Terms Term With Siblings Child Terms
Arthrogryposis +     
monogenic disease +     
Alport syndrome +   
amyotrophic lateral sclerosis +   
ARC syndrome +   
Arthrogryposis and Ectodermal Dysplasia 
arthrogryposis due to muscular dystrophy  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Mental Retardation, and Seizures  
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Arthrogryposis, X-Linked, Type V 
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
bone development disease +   
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
Bruck syndrome +   
Brugada syndrome +   
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly-Ichthyosis Syndrome 
Camurati-Engelmann disease +   
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 
cardiofaciocutaneous syndrome +   
Cartwright Nelson Fryns Syndrome 
cataract +   
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
catecholaminergic polymorphic ventricular tachycardia +   
Cayman type cerebellar ataxia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
chondrodysplasia punctata +   
ciliopathy +   
cone-rod dystrophy +   
Congenital Arthrogryposis with Anterior Horn Cell Disease  
congenital heart disease +   
Congenital Neuropathy with Arthrogryposis Multiplex 
congenital structural myopathy +   
Congenital, Hereditary, and Neonatal Diseases and Abnormalities +   
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A  
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
Craniomicromelic Syndrome 
Cyprus Facial Neuromusculoskeletal Syndrome 
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
distal arthrogryposis +   
Ehlers-Danlos Syndrome, Musculocontractural Type 2  
erythrokeratodermia variabilis +   
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
fetal akinesia deformation sequence syndrome +   
A monogenic disease characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (DO)
Fetal Akinesia Syndrome, X-Linked 
German Syndrome 
Gordon Syndrome  
GRACILE syndrome  
Granddad Syndrome 
Hecht Syndrome  
hereditary neuropathy with liability to pressure palsies  
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
Hoyeraal Hreidarsson Syndrome  
hypochondrogenesis  
IMAGe syndrome  
IMAGEI Syndrome  
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
isolated microphthalmia 4  
Jequier Kozlowski Skeletal Dysplasia 
Johnston Aarons Schelley Syndrome 
Ladda Zonana Ramer syndrome 
lambda 5 deficiency 
Lambotte Syndrome 
Language Development Disorders +   
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
lethal congenital contracture syndrome +   
Massa Casaer Ceulemans Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Minicore Myopathy, Antenatal Onset, with Arthrogryposis 
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, Lethal Type  
Neonatal Progeroid Syndrome  
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
Neurodevelopmental Disorders +   
neurogenic arthrogryposis multiplex congenita +   
Noonan syndrome +   
Oculomelic Amyoplasia  
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
Pelvic Dysplasia Arthrogryposis of Lower Limbs 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Podder-Tolmie Syndrome 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary congenital glaucoma +   
Ray Peterson Scott Syndrome 
Ritscher-Schinzel syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Seckel syndrome 4  
Severe Growth Restriction with Distinctive Facies  
Sharma Kapoor Ramji Syndrome 
Short Stature and Locking Fingers 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spranger Schinzel Myers Syndrome 
Thymic-Renal-Anal-Lung Dysplasia 
trichohepatoenteric syndrome +   
Woods Leversha Rogers Syndrome 
X-linked monogenic disease +   
Y-linked monogenic disease +   

Synonyms
Exact Synonyms: FADS ;   Pena-Shokeir syndrome type 1 ;   arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome ;   fetal akinesia deformation sequence
Xrefs: GARD:9634 ;   OMIM:PS208150 ;   ORDO:994
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19261599, https://www.ncbi.nlm.nih.gov/pubmed/22482962, https://www.ncbi.nlm.nih.gov/pubmed/30498368

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