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Ontology Browser
Term:
facioscapulohumeral muscular dystrophy 4 (DOID:0060918)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
acrocallosal syndrome +   
AMED syndrome  
autosomal recessive nonsyndromic deafness 1A  
autosomal-mitochondrial sensorineural deafness  
craniosynostosis 7  
dyskeratosis congenita +   
facioscapulohumeral muscular dystrophy 1  
facioscapulohumeral muscular dystrophy 2  
facioscapulohumeral muscular dystrophy 3  
facioscapulohumeral muscular dystrophy 4  
A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)
hereditary coproporphyria +   
hereditary hypophosphatemic rickets with hypercalciuria  
iminoglycinuria  
Joubert syndrome 15  
Joubert syndrome 9  
long QT syndrome 1  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
methylmalonic aciduria and homocystinuria type cblC  
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
ocular albinism with sensorineural deafness  
oculocutaneous albinism type IB  
Parkinson's disease 6  
primary pulmonary hypertension +   
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
retinitis pigmentosa 7  
Scapulohumeral Muscular Dystrophy  
short-rib thoracic dysplasia 7 with or without polydactyly  
spinocerebellar ataxia type 17  
Usher syndrome type 1D +   
Usher syndrome type 2C  
Waardenburg syndrome type 2A  

Synonyms
Exact Synonyms: FSHD4 ;   facioscapulohumeral muscular dystrophy 4, digenic ;   facioscapulohumeral muscular dystrophy type 4
Primary IDs: MIM:619478
Alternate IDs: DOID:9002013
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/27153398/ "DO" "DO"

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