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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
distal myopathy +     
myofibrillar myopathy +     
respiratory failure +     
adult respiratory distress syndrome  
Airway Obstruction +   
amyotrophic lateral sclerosis type 21  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
Circumvallate Placenta Syndrome 
congenital myopathy 17  
congenital myopathy 21  
congenital myopathy 9A  
Desmin Storage Myopathy 
distal myopathy 1  
distal myopathy 3  
distal myopathy 4  
Distal Myopathy 5  
Distal Myopathy 6  
Distal Myopathy 7  
distal myopathy Tateyama type  
distal myopathy with anterior tibial onset  
distal myopathy with rimmed vacuoles  
fatal infantile hypertonic myofibrillar myopathy  
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
GNE myopathy  
hantavirus pulmonary syndrome 
Hypoventilation +   
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA  
Infantile Apparent Life-Threatening Event 
infantile-onset distal myopathy 
Laryngeal Granuloma 
Miyoshi muscular dystrophy +   
myofibrillar myopathy 1  
myofibrillar myopathy 10  
myofibrillar myopathy 11  
Myofibrillar Myopathy 12  
myofibrillar myopathy 2  
myofibrillar myopathy 3  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myofibrillar myopathy 9  
A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
neonatal respiratory failure +   
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
newborn respiratory distress syndrome +   
Positive-Pressure Respiration, Intrinsic 
pulmonary edema +   
Respiratory Acidosis 
Respiratory Paralysis 
Respiratory Underresponsiveness to Hypoxia and Hypercapnia  
spinal muscular atrophy with progressive myoclonic epilepsy  
Tauopathy and Respiratory Failure 
Thompson Baraitser Syndrome 
tibial muscular dystrophy  
Welander Distal Myopathy, Swedish Type  

Synonyms
Exact Synonyms: Edstrom Myopathy ;   HIBM-ERF ;   HMERF ;   Hereditary Myopathy with Early Respiratory Failure ;   MFM-titinopathy ;   MFM9 ;   MPRM ;   Myofibrillar Myopathy 9 with Early Respiratory Failure ;   distal myopathy with early respiratory failure, autosomal dominant ;   hereditary inclusion body myopathy with early respiratory failure ;   myofibrillar myopathy-titinopathy ;   proximal myopathy with early respiratory muscle involvement
Primary IDs: OMIM:603689
Alternate IDs: MESH:C564377 ;   MESH:C566343
Xrefs: EFO:0010828 ;   GARD:12591 ;   ORDO:178464
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15802564 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23486992 "DO" "DO"

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