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Term:Brain-Lung-Thyroid Syndrome
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Accession:DOID:9004758 term browser browse the term
Synonyms:exact_synonym: CAHTP;   CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION;   choreoathetosis and congenital hypothyroidism;   choreoathetosis, hypothyroidism, and neonatal respiratory distress
 primary_id: MESH:C567034
 alt_id: OMIM:610978;   RDO:0012005
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Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-1 NK2 homeobox 1 JBrowse link 14 36,516,397 36,520,232 RGD:12914768
G NKX2-1-AS1 NKX2-1 antisense RNA 1 JBrowse link 14 36,519,278 36,523,016 RGD:8554872
G SFTA3 surfactant associated 3 JBrowse link 14 36,473,288 36,519,556 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16491
    syndrome 5720
      Brain-Lung-Thyroid Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16491
    disease of anatomical entity 15468
      nervous system disease 11728
        central nervous system disease 9866
          brain disease 9145
            movement disease 1120
              Dyskinesias 730
                Athetosis 5
                  Brain-Lung-Thyroid Syndrome 3
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.