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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:autosomal recessive distal hereditary motor neuronopathy 1
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Accession:DOID:0111064 term browser browse the term
Definition:A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: DHMN6;   DSMA1;   HMN VI;   HMN6;   HMNR1;   Hmnvi;   SIANRF;   SMARD1;   autosomal recessive distal spinal muscular atrophy 1;   autosomal recessive spinal muscular atrophy with respiratory distress;   diaphragmatic spinal muscular atrophy;   distal hereditary motor neuronopathy type VI;   distal hereditary motor neuronopathy, Harding type VI;   distal hereditary motor neuronopathy, autosomal recessive 1;   distal hereditary motor neuropathy type 6;   distal hereditary motor neuropathy, autosomal recessive 1;   distal spinal muscular atrophy 1;   distal spinal muscular atrophy type 1;   distal-HMN type 6;   severe infantile axonal neuronopathy with respiratory failure;   severe infantile axonal neuropathy with respiratory failure;   severe infantile axonal neuropathy with respiratory failure type 1;   spinal muscular atrophy with respiratory distress
 narrow_synonym: Spinal muscular atrophy with respiratory distress type 1;   Spinal muscular atrophy with respiratory distress type 2
 xref: EFO:0003107;   MESH:C536880;   MIM:604320;   MONDO:0018450;   ORDO:98920


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autosomal recessive distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO
ISS		 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:604320
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... RGD:737748 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Infant, Newborn, Diseases 1290
          Premature Infant Diseases 289
            newborn respiratory distress syndrome 205
              autosomal recessive distal hereditary motor neuronopathy 1 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              motor neuron disease 547
                spinal muscular atrophy 153
                  autosomal recessive distal hereditary motor neuronopathy 64
                    autosomal recessive distal hereditary motor neuronopathy 1 1
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