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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 null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412, PMID:16764984, PMID:19504604, PMID:23657145, PMID:23812909, PMID:24204987, PMID:24888332, PMID:25064402, PMID:25326635, PMID:25741868, PMID:26931467, PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      holoprosencephaly 34
        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft lip 58
                      BILATERAL CLEFT LIP 4
                        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.