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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 that is characterized by malformations of the face, oral cavity, and digits. (DO)
Synonyms:exact_synonym: Gorlin Psaume syndrome;   dysplasia linguofacialis;   oral-facial-digital syndrome;   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 9:8,393,610...8,512,843
Ensembl chr 9:8,393,612...8,512,848 		JBrowse link
G CFAP184 cilia and flagella associated protein 184 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 8:3,828,389...3,831,310 JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 1:137,870,897...137,997,201
Ensembl chr 1:137,886,405...137,997,131 		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 chr 3:78,435,154...78,726,313
Ensembl chr 3:78,268,922...78,856,893 		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: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,380,326...22,500,998 		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:20301332 PMID:25741868 PMID:28492532 PMID:32255174 More... NCBI chr14:11,495,297...11,532,898 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 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: Orofaciodigital syndrome II ClinVar PMID:27158779 NCBI chr 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Mohr syndrome ClinVar
OMIM		 PMID:25741868 PMID:27530628 PMID:28492532 PMID:29068549 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		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 OMIM
ClinVar		 PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 More... NCBI chr  X:10,361,403...10,415,502 JBrowse link
G TMEM17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr 3:79,415,767...79,422,397
Ensembl chr 3:79,415,717...79,422,393 		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 PMID:27894351 PMID:28492532 NCBI chr 4:110,819,422...110,845,354
Ensembl chr 4:110,819,428...110,845,132 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar NCBI chr  X:10,361,403...10,415,502 JBrowse link
G TMEM231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar PMID:25741868 PMID:25869670 PMID:26489029 PMID:28492532 PMID:34354814 NCBI chr 6:12,140,317...12,163,894
Ensembl chr 6:12,140,687...12,164,140 		JBrowse link
orofaciodigital syndrome IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Orofacial-digital syndrome IV ClinVar PMID:28492532 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010 		JBrowse link
G TCTN3 tectonic family member 3 ISO ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV OMIM
ClinVar		 PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 More... NCBI chr14:107,230,820...107,263,364
Ensembl chr14:107,230,934...107,263,344 		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 8:95,949,460...96,199,116
Ensembl chr 8:95,949,572...96,199,110 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar PMID:25741868 NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375 		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:25741915 PMID:28492532 More... NCBI chr10:23,198,879...23,222,530
Ensembl chr10:23,198,798...23,221,067 		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: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 More... NCBI chr 9:8,393,610...8,512,843
Ensembl chr 9:8,393,612...8,512,848 		JBrowse link
Orofaciodigital Syndrome XIX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCNM1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX ClinVar PMID:36084634 NCBI chr 4:98,079,844...98,082,374
Ensembl chr 4:98,079,851...98,082,351 		JBrowse link
Orofaciodigital Syndrome XV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XV OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28492532 More... NCBI chr12:50,737,158...50,793,187
Ensembl chr12:50,742,773...50,898,331 		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 PMID:28492532 NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,332...53,397,064 		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 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650 		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 chr13:151,298,552...151,356,715
Ensembl chr13:151,298,554...151,357,155 		JBrowse link
Orofaciodigital Syndrome XX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XX OMIM
ClinVar		 PMID:25741868 PMID:37384395 PMID:37619988 NCBI chr12:44,951,989...44,956,458
Ensembl chr12:44,951,210...44,956,119 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17420
    syndrome 9902
      orofaciodigital syndrome 32
        Joubert syndrome with orofaciodigital defect 1
        Juberg Hayward Syndrome 11
        Mohr Syndrome 2
        Orofaciodigital Syndrome 12 0
        Orofaciodigital Syndrome 13 0
        Orofaciodigital Syndrome XIV 1
        Orofaciodigital Syndrome XIX 1
        Orofaciodigital Syndrome XV 1
        Orofaciodigital Syndrome XVIII 1
        Orofaciodigital Syndrome XX 1
        orofaciodigital syndrome I 2
        orofaciodigital syndrome III 3
        orofaciodigital syndrome IV 2
        orofaciodigital syndrome IX 2
        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 17420
    disease of anatomical entity 14883
      Skin and Connective Tissue Diseases 6729
        connective tissue disease 5231
          bone disease 3787
            bone development disease 2249
              dysostosis 561
                orofaciodigital syndrome 32
                  Joubert syndrome with orofaciodigital defect 1
                  Juberg Hayward Syndrome 11
                  Mohr Syndrome 2
                  Orofaciodigital Syndrome 12 0
                  Orofaciodigital Syndrome 13 0
                  Orofaciodigital Syndrome XIV 1
                  Orofaciodigital Syndrome XIX 1
                  Orofaciodigital Syndrome XV 1
                  Orofaciodigital Syndrome XVIII 1
                  Orofaciodigital Syndrome XX 1
                  orofaciodigital syndrome I 2
                  orofaciodigital syndrome III 3
                  orofaciodigital syndrome IV 2
                  orofaciodigital syndrome IX 2
                  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