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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:Robinow syndrome
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Accession:DOID:0060254 term browser browse the term
Definition:A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)
Synonyms:exact_synonym: Robinow dwarfism;   Robinow-Silverman-Smith syndrome;   acral dysostosis with facial and genital abnormalities;   autosomal dominant Robinow syndrome;   fetal face syndrome;   mesomelic dwarfism-small genitalia syndrome
 primary_id: MESH:C562492
 alt_id: RDO:0012199
 xref: GARD:312;   MIM:PS268310;   NCI:C85048


show annotations for term's descendants           Sort by:
Robinow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf4 dynein axonemal assembly factor 4 ISS MouseDO NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Wnt5a Wnt family member 5A ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities		 CTD
ClinVar
MouseDO		 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234 		JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 OMIM
ClinVar		 PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234 		JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 OMIM
ClinVar		 PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More... NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
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		 OMIM:268310
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
autosomal recessive Robinow syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr10:61,109,322...61,247,578
Ensembl chr10:61,110,020...61,248,251 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      Robinow syndrome 9
        autosomal dominant Robinow syndrome 1 5
        autosomal dominant Robinow syndrome 2 4
        autosomal dominant Robinow syndrome 3 2
        autosomal recessive Robinow syndrome 2
        autosomal recessive Robinow syndrome 2 1
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 dominant Robinow syndrome 1 5
                  autosomal dominant Robinow syndrome 2 4
                  autosomal dominant Robinow syndrome 3 2
                  autosomal recessive Robinow syndrome 2
                  autosomal recessive Robinow syndrome 2 1
paths to the root