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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 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Ccdc96 coiled-coil domain containing 96 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr14:79,443,151...79,445,591
Ensembl chr14:79,443,543...79,445,471
JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 1:128,604,324...128,687,900
Ensembl chr 1:128,606,770...128,687,893
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orofaciodigital syndromes ClinVar PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
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 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar
OMIM
PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25741868, PMID:25846457, PMID:25920555, PMID:26092869, PMID:27081551, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:10982489, PMID:12410386, PMID:12612583, PMID:15194946, PMID:15917206, PMID:16299064, PMID:16417552, PMID:16822260, PMID:17264970, PMID:17431908, PMID:17632775, PMID:18414213, PMID:18805826, PMID:19773341, PMID:20598277, PMID:20844545, PMID:21520333, PMID:21836662, PMID:22522697, PMID:25167861, PMID:25649377, PMID:25741868, PMID:26404489, PMID:26467025, PMID:27193221, PMID:28133863, PMID:28454995, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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: Mohr syndrome ClinVar PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437
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: Orofaciodigital syndrome I
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type 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
PMID:9198060, PMID:9482645, PMID:11179005, PMID:11950863, PMID:16783569, PMID:18414213, PMID:18546297, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26275793, PMID:26467025, PMID:28289185, PMID:28492532, PMID:28973083, PMID:18177199, PMID:16397067, PMID:21729220, PMID:11950863, PMID:23033313 RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868, PMID:26982032 NCBI chr14:107,268,235...107,308,546
Ensembl chr14:107,268,128...107,308,542
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: ORAL-FACIAL-DIGITAL SYNDROME, TYPE III ClinVar NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE III ClinVar NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
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
ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME
ClinVar Annotator: match by OMIM:258860
OMIM
ClinVar
PMID:22883145, PMID:24033266, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:259,681,435...259,691,881
Ensembl chr 1:259,682,249...259,691,742
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 9 ClinVar NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
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 5
ClinVar Annotator: match by OMIM:174300
OMIM
ClinVar
PMID:23972372, PMID:25741868 NCBI chr13:53,299,872...53,324,824
Ensembl chr13:53,299,872...53,324,824
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
ClinVar Annotator: match by OMIM:615948
OMIM
ClinVar
PMID:24997988, PMID:25741868, PMID:26092869, PMID:30097616 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
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 ClinVar
OMIM
PMID:26643951 NCBI chr10:58,726,721...58,776,718
Ensembl chr10:58,729,306...58,771,908
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: OROFACIODIGITAL SYNDROME XVI ClinVar
OMIM
PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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: OROFACIODIGITAL SYNDROME XVII ClinVar
OMIM
PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437
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 XVIII ClinVar
OMIM
PMID:25741868, PMID:27060890 NCBI chr11:53,664,638...53,731,779
Ensembl chr11:53,664,638...53,731,779
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      orofaciodigital syndrome 16
        Joubert syndrome with orofaciodigital defect 1
        Juberg Hayward Syndrome 1
        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 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                orofaciodigital syndrome 16
                  Joubert syndrome with orofaciodigital defect 1
                  Juberg Hayward Syndrome 1
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.