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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:Beaulieu-Boycott-Innes Syndrome
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Accession:DOID:9006768 term browser browse the term
Synonyms:exact_synonym: BBIS;   THOC6-RELATED CONDITION;   THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome;   microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
 xref: MIM:613680;   MONDO:0013362


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Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21270786 PMID:23621916 PMID:25741868 More... NCBI chr10:13,204,643...13,210,004
Ensembl chr10:13,204,644...13,210,004 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Beaulieu-Boycott-Innes Syndrome 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  intellectual disability 1376
                    Beaulieu-Boycott-Innes Syndrome 2
paths to the root