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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
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Accession:DOID:9005257 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth.
Synonyms:exact_synonym: NMDF;   congenital neuromuscular disorder with dysmorphic facies
 primary_id: MIM:620775


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NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FILIP1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder, congenital, with dysmorphic facies OMIM
ClinVar		 PMID:36943452 PMID:37163662 NCBI chr 1:90,427,529...90,643,061
Ensembl chr 1:90,427,659...90,638,550 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15346
    Pathological Conditions, Signs and Symptoms 11990
      Pathologic Processes 7592
        Disease Attributes 868
          Facies 497
            NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 15346
    disease of anatomical entity 15036
      nervous system disease 13152
        Neurologic Manifestations 9705
          Neuromuscular Manifestations 787
            Muscle Hypotonia 290
              NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES 1
paths to the root