Ontology Browser

Term:
Carey-Fineman-Ziter syndrome (DOID:0080194)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Anal Sphincter Myopathy, Internal 
Arthrogryposis +   
atrophic muscular disease +   
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
Carey-Fineman-Ziter syndrome  
A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. (DO)
Catel Manzke Syndrome  
Chitayat Meunier Hodgkinson Syndrome 
chronic fatigue syndrome  
compartment syndrome +   
Congenital Facial Diplegia 
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Craniomandibular Disorders +   
diaphragm disease +   
Dimauro Disease  
Early-Onset Myopathy with Fatal Cardiomyopathy  
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
familial periodic paralysis +   
Femoral Facial Syndrome 
fibromyalgia +   
Fingerprint Body Myopathy 
Gamstorp-Wohlfart syndrome  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
Hypertrophia Musculorum Vera 
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Moebius Axonal Neuropathy Hypogonadism 
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 +   
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
Myopathy, Hyaline Body, Autosomal Recessive  
Myopathy, Myosin Storage  
MYOPATHY, SCAPULOHUMEROPERONEAL  
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
neutral lipid storage disease +   
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 
Pierre Robin Syndrome with Fetal Chondrodysplasia  
polymyalgia rheumatica  
Proximal Myopathy with Focal Depletion of Mitochondria 
Radial Defect Robin Sequence 
Rhabdomyolysis +   
Richieri Costa Pereira Syndrome  
Robin Sequence and Oligodactyly 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Sanderson Fraser Syndrome 
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Stevenson-Carey Syndrome 
Stoll Alembik Dott Syndrome 
systemic primary carnitine deficiency disease  
TARP Syndrome  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Thrombocytopenia Robin Sequence 
Treft Sanborn Carey Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay Faciocardiomusculoskeletal Syndrome  
Vacuolar Myopathy  
Ventricular Extrasystoles Perodactyly Robin Sequence 
very long chain acyl-CoA dehydrogenase deficiency  

Synonyms
Exact Synonyms: Congenital nonprogressive myopathy with Moebius and Robin sequence ;   Moebius sequence, Robin complex, and hypotonia ;   Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences ;   Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence
Primary IDs: MESH:C536102
Alternate IDs: OMIM:254940 ;   RDO:0001538
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/28681861, https://www.omim.org/entry/254940?search=254940&highlight=254940

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