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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:orofaciodigital syndrome
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Accession:DOID:4501 term browser browse the term
Definition:A syndrome of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Synonyms:exact_synonym: Gorlin Psaume syndrome;   Oral-Facial-Digital Syndrome;   dysplasia linguofacialis;   oro-facio-digital syndrome;   orodigitofacial dysostosis;   orodigitofacial syndrome;   orofaciodigital syndromes
 primary_id: MESH:D009958
 xref: OMIM:PS311200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
orofaciodigital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997988 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
G Ccdc96 coiled-coil domain containing 96 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr14:74,276,568...74,279,072
Ensembl chr14:74,276,960...74,278,888 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: VARADI SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Juberg-Hayward syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:9071288 PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
Mohr Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE II ClinVar PMID:27158779 NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676 		JBrowse link
orofaciodigital syndrome I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I
DNA:missense mutation:exon:243C>G (H81Q) (human)
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:deletion:exon:c.2183delG (human)
DNA:frameshift mutations, missense mutation, splice-site mutation:multiple
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
RGD		 PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 More... RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233 		JBrowse link
orofaciodigital syndrome III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
orofaciodigital syndrome IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Orofacial-digital syndrome IV OMIM
ClinVar		 PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 More... NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
orofaciodigital syndrome IX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
orofaciodigital syndrome V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome V OMIM
ClinVar		 PMID:16278897 PMID:23972372 PMID:25741868 PMID:28492532 PMID:28711741 More... NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214 		JBrowse link
Orofaciodigital Syndrome XIV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Orofaciodigital syndrome xiv OMIM
ClinVar		 PMID:24997988 PMID:25741868 PMID:26092869 PMID:28492532 PMID:30097616 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
Orofaciodigital Syndrome XV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XV OMIM
ClinVar		 PMID:25741868 PMID:26643951 PMID:28492532 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		JBrowse link
orofaciodigital syndrome XVI term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI OMIM
ClinVar		 PMID:25741868 PMID:26595381 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
orofaciodigital syndrome XVII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII OMIM
ClinVar		 PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676 		JBrowse link
Orofaciodigital Syndrome XVIII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift57 intraflagellar transport 57 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 18 OMIM
ClinVar		 PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      orofaciodigital syndrome 17
        Joubert syndrome with orofaciodigital defect 1
        Juberg Hayward Syndrome 2
        Mohr Syndrome 1
        Orofaciodigital Syndrome 12 0
        Orofaciodigital Syndrome 13 0
        Orofaciodigital Syndrome XIV 1
        Orofaciodigital Syndrome XV 1
        Orofaciodigital Syndrome XVIII 1
        orofaciodigital syndrome I 2
        orofaciodigital syndrome III 2
        orofaciodigital syndrome IV 1
        orofaciodigital syndrome IX 1
        orofaciodigital syndrome V 1
        orofaciodigital syndrome VII 0
        orofaciodigital syndrome VIII 0
        orofaciodigital syndrome X 0
        orofaciodigital syndrome XI 0
        orofaciodigital syndrome XVI 1
        orofaciodigital syndrome XVII 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              dysostosis 436
                orofaciodigital syndrome 17
                  Joubert syndrome with orofaciodigital defect 1
                  Juberg Hayward Syndrome 2
                  Mohr Syndrome 1
                  Orofaciodigital Syndrome 12 0
                  Orofaciodigital Syndrome 13 0
                  Orofaciodigital Syndrome XIV 1
                  Orofaciodigital Syndrome XV 1
                  Orofaciodigital Syndrome XVIII 1
                  orofaciodigital syndrome I 2
                  orofaciodigital syndrome III 2
                  orofaciodigital syndrome IV 1
                  orofaciodigital syndrome IX 1
                  orofaciodigital syndrome V 1
                  orofaciodigital syndrome VII 0
                  orofaciodigital syndrome VIII 0
                  orofaciodigital syndrome X 0
                  orofaciodigital syndrome XI 0
                  orofaciodigital syndrome XVI 1
                  orofaciodigital syndrome XVII 1
paths to the root