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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by OMIM:610978
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM
ClinVar
PMID:11854318, PMID:11854319, PMID:12891678, PMID:15289765, PMID:15955952, PMID:17220277, PMID:18788921, PMID:19176457, PMID:19336474, PMID:24555207, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29538355, PMID:23911641, PMID:23379327, PMID:18788921, PMID:26839702 RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Brain-Lung-Thyroid Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Athetosis 4
                  Brain-Lung-Thyroid Syndrome 1
paths to the root

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