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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:autosomal recessive Robinow syndrome
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Accession:DOID:0060764 term browser browse the term
Definition:A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA;   RRS;   costovertebral segmentation defect-mesomelia syndrome
 narrow_synonym: BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE;   Covesdem Syndrome;   autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals;   autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1;   autosomal recessive Robinow syndrome, with brachy-syn-polydactyly
 broad_synonym: ROR2-RELATED CONDITION;   ROR2-related disorder
 primary_id: MESH:C535863
 alt_id: MIM:268310
 xref: ORDO:1507


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autosomal recessive Robinow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO
ISS		 DNA:nonsense mutation:cds:p.W749X(mouse)
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: ROR2-related disorder | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
OMIM:268310		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11535948, RGD:11537347, RGD:11537348 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      Robinow syndrome 9
        autosomal recessive Robinow syndrome 2
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              Dwarfism 865
                Robinow syndrome 9
                  autosomal recessive Robinow syndrome 2
paths to the root