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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;   NCI:C85048;   OMIM:PS268310
For additional species annotation, visit the Alliance of Genome Resources.



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 CTD 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr16:3,695,667...3,718,234
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 ISS
ISO
OMIM:180700
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1
MouseDO
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 ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 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: Robinow syndrome, autosomal dominant 1 ClinVar PMID:25759469 PMID:29276006 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: Robinow syndrome, autosomal dominant 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: Robinow syndrome, autosomal dominant 1 OMIM
ClinVar
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chr16:3,695,667...3,718,234
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: Robinow syndrome, autosomal dominant 2 ClinVar NCBI chr 3:58,509,822...58,676,774
Ensembl chr 3:58,510,536...58,676,490
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar
OMIM
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: Robinow syndrome, autosomal dominant 2 ClinVar 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: Robinow syndrome, autosomal dominant 2 ClinVar PMID:25759469 PMID:29276006 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: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3
ClinVar
OMIM
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: Robinow syndrome, autosomal dominant 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 ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive
ClinVar Annotator: match by OMIM:268310
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)
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
OMIM
ClinVar
CTD
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:29276006 NCBI chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Robinow syndrome 9
        Autosomal Recessive Robinow Syndrome 2 1
        autosomal dominant Robinow syndrome 1 5
        autosomal dominant Robinow syndrome 2 4
        autosomal dominant Robinow syndrome 3 2
        autosomal recessive Robinow syndrome 2
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      musculoskeletal system disease 6417
        connective tissue disease 4421
          bone disease 3108
            bone development disease 1414
              Dwarfism 495
                Robinow syndrome 9
                  Autosomal Recessive Robinow Syndrome 2 1
                  autosomal dominant Robinow syndrome 1 5
                  autosomal dominant Robinow syndrome 2 4
                  autosomal dominant Robinow syndrome 3 2
                  autosomal recessive Robinow syndrome 2
paths to the root