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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 microcephaly, absent speech, and hypotonia
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Accession:DOID:0051030 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: NEDMISH;   Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
 alt_id: DOID:9009282
 xref: MIM:621060


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neurodevelopmental disorder with microcephaly, absent speech, and hypotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA OMIM
ClinVar		 PMID:26467025 PMID:39306721 NCBI chr13:105,117,402...105,139,780
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital nervous system abnormality 1538
        microcephaly 1146
          neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  communication disorder 419
                    language disorder 171
                      speech disorder 85
                        neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 1
paths to the root