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Term:
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (DOID:9001346)
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Parent Terms Term With Siblings Child Terms
Contracture +     
muscular disease +     
pulmonary fibrosis +     
Aase Smith Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
Arthrogryposis +   
atrophic muscular disease +   
Axial Mesodermal Dysplasia Spectrum 
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Bethlem myopathy +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Bowen Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
Carey-Fineman-Ziter syndrome  
chronic fatigue syndrome  
compartment syndrome +   
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 
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes +   
Craniomandibular Disorders +   
Davenport Donlan Syndrome 
diaphragm disease +   
diffuse pulmonary fibrosis  
Dimauro Disease  
Dupuytren Contracture +  
Dystonia with Ringbinden 
Early-Onset Myopathy with Fatal Cardiomyopathy  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
eosinophilia-myalgia syndrome  
Erosive Arthropathy 
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Gamstorp-Wohlfart 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  
Hypertrophia Musculorum Vera 
idiopathic pulmonary fibrosis  
Iida Kannari Syndrome 
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
Internal Anal Sphincter Myopathy 
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
lethal congenital contracture syndrome 3  
lethal restrictive dermopathy  
localized pulmonary fibrosis 
Macleod Fraser syndrome 
Marden-Walker Syndrome  
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Mental Retardation Mietens Weber Type 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Miles-Carpenter syndrome +   
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Multiple Pterygium Syndrome, X-Linked 
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 with Lactic Acidosis, Hereditary  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
Myotoxicity 
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  
plantar fascial fibromatosis 
postinflammatory pulmonary fibrosis 
proximal myopathy and ophthalmoplegia  
Proximal Myopathy with Focal Depletion of Mitochondria 
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related +   
Rhabdomyolysis +   
Rozin Hertz Goodman Syndrome 
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Spondylospinal Thoracic Dysostosis 
stiff skin syndrome  
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay faciocardiomusculoskeletal syndrome  
Vacuolar Myopathy  
Van den Ende-Gupta syndrome  
very long chain acyl-CoA dehydrogenase deficiency  
Volkmann contracture 
Warburg-Cinotti Syndrome  
Winchester syndrome  
Winter Harding Hyde Syndrome 
X-linked Emery-Dreifuss muscular dystrophy 1  

Synonyms
Exact Synonyms: POIKTMP ;   Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement
Primary IDs: OMIM:615704
Alternate IDs: RDO:9001031

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