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ONTOLOGY REPORT - ANNOTATIONS


Term:NFIA-related disorder
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Accession:DOID:0060409 term browser browse the term
Definition:A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO)
Synonyms:exact_synonym: BRMUTD;   chromosome 1p32-p31 deletion syndrome
 related_synonym: 1p31p32 microdeletion syndrome;   brain malformations with or without urinary tract defects
 primary_id: OMIM:613735
 xref: ORDO:401986
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NFIA-related disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      chromosomal deletion syndrome 752
        NFIA-related disorder 1
Path 2
Term Annotations click to browse term
  disease 16017
    Pathological Conditions, Signs and Symptoms 8488
      Pathologic Processes 5977
        Chromosome Aberrations 1595
          Aneuploidy 889
            Monosomy 794
              Chromosome Deletion 794
                chromosomal deletion syndrome 752
                  NFIA-related disorder 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.