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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: BAMLAZ;   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


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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 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748 		JBrowse link
G Foxe1 forkhead box E1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:241850
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 4:46,343,644...46,345,774
Ensembl chr 4:46,343,609...46,346,412 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      hypothyroidism 330
        Bamforth-Lazarus syndrome 2
Path 2
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17780
        Congenital Abnormalities 7602
          Musculoskeletal Abnormalities 3332
            Craniofacial Abnormalities 2683
              Maxillofacial Abnormalities 310
                Jaw Abnormalities 264
                  orofacial cleft 157
                    cleft palate 117
                      Bamforth-Lazarus syndrome 2
paths to the root