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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:Catel Manzke Syndrome
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Accession:DOID:9000014 term browser browse the term
Synonyms:exact_synonym: CATMANS;   Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome;   Index Finger Anomaly With Pierre Robin Syndrome;   MICROGNATHIA DIGITAL SYNDROME;   Palatodigital syndrome, Catel-Manzke type;   Pierre Robin syndrome with hyperphalangy and clinodactyly
 primary_id: MESH:C535347;   OMIM:616145;   RDO:0000414
For additional species annotation, visit the Alliance of Genome Resources.



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Catel Manzke Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel Manzke syndrome
ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME
ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar
OMIM
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Catel Manzke Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Craniofacial Abnormalities 1964
              Maxillofacial Abnormalities 244
                Jaw Abnormalities 232
                  Weissenbacher-Zweymuller syndrome 43
                    Catel Manzke Syndrome 2
paths to the root