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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:0081122 term browser browse the term
Definition:A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)
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;   MIM:616145
 alt_id: DOID:9000014
 xref: GARD:28;   ORDO:1388


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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 Annotator: match by term: Index finger anomaly with Pierre Robin syndrome OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Weissenbacher-Zweymuller syndrome 46
        Catel Manzke syndrome 2
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Craniofacial Abnormalities 2765
              Maxillofacial Abnormalities 311
                Jaw Abnormalities 265
                  Weissenbacher-Zweymuller syndrome 46
                    Catel Manzke syndrome 2
paths to the root