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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:DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
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Accession:DOID:9001354 term browser browse the term
Definition:A complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities.
Synonyms:exact_synonym: DIGFAN
 broad_synonym: MORC2-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: OMIM:619090
For additional species annotation, visit the Alliance of Genome Resources.



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DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy OMIM
ClinVar
PMID:25741868 PMID:28135719 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Neurodevelopmental Disorders 6154
        Developmental Disabilities 660
          DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            disease of mental health 7503
              Neurodevelopmental Disorders 6154
                Developmental Disabilities 660
                  DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 1
paths to the root