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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: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
For additional species annotation, visit the Alliance of Genome Resources.



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NFIA-related disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS ClinVar
OMIM
PMID:24462883 PMID:25714559 PMID:25741868 PMID:27081522 NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      chromosomal deletion syndrome 1016
        NFIA-related disorder 1
Path 2
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Pathologic Processes 6861
        Chromosome Aberrations 2053
          Aneuploidy 1332
            Monosomy 1060
              Chromosome Deletion 1060
                chromosomal deletion syndrome 1016
                  NFIA-related disorder 1
paths to the root