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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:Bamforth-Lazarus syndrome
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Accession:DOID:0050655 term browser browse the term
Definition:A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: Bamforth syndrome;   Hypothyroidism cleft palate;   athyroidal hypothyroidism with spiky hair and cleft palate;   hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate;   thyroidal hypothyroidism with spiky hair and cleft palate
 primary_id: MESH:C537901
 alt_id: OMIM:241850;   RDO:0003813
For additional species annotation, visit the Alliance of Genome Resources.


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Bamforth-Lazarus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bamforth syndrome
OMIM
ClinVar
CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      hypothyroidism 149
        Bamforth-Lazarus syndrome 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Musculoskeletal Abnormalities 1683
            Craniofacial Abnormalities 1418
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      Bamforth-Lazarus syndrome 2
paths to the root