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NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 - Ontology Report - Rat Genome Database

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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:NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1
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Accession:DOID:9008751 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by profound neurodevelopmental impairment, microcephaly, pathognomonic craniofacial features, ectodermal defects, and tetraparesis.
Synonyms:exact_synonym: NEDFET1
 primary_id: MIM:620888

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NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 OMIM
ClinVar		 PMID:38118446 NCBI chr 7:113,128,645...113,153,094
Ensembl chr 7:111,248,254...111,272,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              Skin Abnormalities 1321
                ectodermal dysplasia 550
                  NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 1
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