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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:14564220, PMID:18501694, PMID:21834032, PMID:22887726, PMID:24326962, PMID:25480037, PMID:25741868, PMID:26366375, PMID:28422407 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 16058
    syndrome 6996
      Catel Manzke Syndrome 2
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
                  Weissenbacher-Zweymuller syndrome 48
                    Catel Manzke Syndrome 2
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.