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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 chrNW_004955502:3,806,016...3,976,013
Ensembl chrNW_004955502:3,823,872...3,903,481 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14273
    Pathological Conditions, Signs and Symptoms 11237
      Pathologic Processes 7106
        Disease Attributes 819
          Facies 485
            NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 14273
    disease of anatomical entity 13976
      nervous system disease 12267
        Neurologic Manifestations 9113
          Neuromuscular Manifestations 767
            Muscle Hypotonia 284
              NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES 1
paths to the root