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Bamforth-Lazarus syndrome - Ontology Report - Rat Genome Database

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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: MIM:241850

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Bamforth-Lazarus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519 		JBrowse link
G G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G P BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr13:104,946,732...105,007,568 JBrowse link
G S Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chrNW_004936707:1,784,338...1,913,401
Ensembl chrNW_004936707:1,854,444...1,913,460 		JBrowse link
G D BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G B BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		JBrowse link
G C Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970 		JBrowse link
G R Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G M 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 H BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G N Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chrNW_004624825:2,979,447...2,981,412
Ensembl chrNW_004624825:2,980,176...2,981,303 		JBrowse link
G G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr12:41,555,901...41,559,914
Ensembl chr12:41,557,568...41,558,686 		JBrowse link
G P FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr 1:239,727,769...239,732,461
Ensembl chr 1:239,727,855...239,728,976 		JBrowse link
G S Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chrNW_004936524:6,619,128...6,620,278
Ensembl chrNW_004936524:6,619,128...6,620,278 		JBrowse link
G D FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr11:55,143,389...55,145,954 JBrowse link
G B FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr 9:68,943,747...68,947,226 JBrowse link
G C Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chrNW_004955419:27,616,606...27,619,908 JBrowse link
G R Foxe1 forkhead box E1 ISO
ISS		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:65,425,630...65,428,438
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
G M Foxe1 forkhead box E1 ISO
IAGP		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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
G H FOXE1 forkhead box E1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      hypothyroidism 5051
        Bamforth-Lazarus syndrome 20
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        Congenital Abnormalities 85100
          Musculoskeletal Abnormalities 36774
            Craniofacial Abnormalities 29843
              Maxillofacial Abnormalities 4053
                Jaw Abnormalities 3582
                  orofacial cleft 2463
                    cleft palate 1166
                      Bamforth-Lazarus syndrome 20
paths to the root