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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 PMID:25741868 PMID:31923704 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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 PMID:26366375 NCBI chr15:103,319,268...103,340,239
Ensembl chr15:103,319,268...103,340,240
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Catel Manzke Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Craniofacial Abnormalities 1480
              Maxillofacial Abnormalities 250
                Jaw Abnormalities 238
                  Weissenbacher-Zweymuller syndrome 49
                    Catel Manzke Syndrome 2
paths to the root