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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
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Bamforth-Lazarus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      hypothyroidism 140
        Bamforth-Lazarus syndrome 2
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        Congenital Abnormalities 3620
          Musculoskeletal Abnormalities 1313
            Craniofacial Abnormalities 1056
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    cleft palate 92
                      Bamforth-Lazarus syndrome 2
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