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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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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:23621916 PMID:25741868 PMID:26739162 More... NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      Beaulieu-Boycott-Innes Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10302
              autosomal dominant disease 6647
                complex cortical dysplasia with other brain malformations 1634
                  Malformations of Cortical Development, Group I 1394
                    microcephaly 1143
                      Beaulieu-Boycott-Innes Syndrome 2
paths to the root