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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar
PMID:15605412 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      holoprosencephaly 129
        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Musculoskeletal Abnormalities 2678
            Craniofacial Abnormalities 2309
              Maxillofacial Abnormalities 280
                Jaw Abnormalities 233
                  orofacial cleft 135
                    cleft lip 55
                      BILATERAL CLEFT LIP 4
                        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
paths to the root