ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
RGD:11554173

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Path 1
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  disease 14875
    syndrome 4220
      hypothyroidism 136
        Bamforth-Lazarus syndrome 2
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft palate 90
                      Bamforth-Lazarus syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.