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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:Juberg Hayward Syndrome
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Accession:DOID:9005190 term browser browse the term
Synonyms:exact_synonym: JHS;   cleft lip-palate with abnormal thumbs and microcephaly;   cleft lip/palate with radial head and digital anomalies;   cranio-oro-digital syndrome;   orocraniodigital syndrome
 primary_id: MESH:C537690
 alt_id: OMIM:216100
For additional species annotation, visit the Alliance of Genome Resources.



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Juberg Hayward Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Juberg-Hayward syndrome OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Juberg Hayward Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Juberg Hayward Syndrome 2
paths to the root