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ONTOLOGY REPORT - ANNOTATIONS


Term:Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
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Accession:DOID:9004955 term browser browse the term
Synonyms:exact_synonym: HRTFDS;   Hartsfield Syndrome
 primary_id: MESH:C564484;   RDO:0013430
 alt_id: OMIM:615465
For additional species annotation, visit the Alliance of Genome Resources.


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Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    cleft lip 50
                      Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 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.