ONTOLOGY REPORT - ANNOTATIONS


Term:orofaciodigital syndrome
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Accession:DOID:4501 term browser browse the term
Definition:Two syndromes 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;   Mohr Syndrome;   Oral Facial Digital Syndrome, Type II;   Oral-Facial-Digital Syndrome;   Oro-Facio-Digital Syndrome;   Orodigitofacial Dysostosis;   Orodigitofacial Syndrome;   dysplasia linguofacialis;   orofaciodigital syndrome II;   orofaciodigital syndromes
 primary_id: MESH:D009958
 alt_id: RDO:0002143
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orofaciodigital syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:11554173
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem17 transmembrane protein 17 JBrowse link 14 107,268,235 107,308,546 RGD:8554872
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
RGD:7240710
orofaciodigital syndrome I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535968
RGD:11535966
RGD:11535960
RGD:11535958
RGD:11535957
orofaciodigital syndrome III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 JBrowse link 2 211,183,410 211,207,458 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
orofaciodigital syndrome IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn3 tectonic family member 3 JBrowse link 1 259,681,435 259,691,881 RGD:7240710
RGD:8554872
orofaciodigital syndrome IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:8554872
orofaciodigital syndrome V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx59 DEAD-box helicase 59 JBrowse link 13 53,299,872 53,324,824 RGD:7240710
RGD:8554872
Orofaciodigital Syndrome XIV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:7240710
RGD:8554872
Orofaciodigital Syndrome XV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
RGD:7240710
orofaciodigital syndrome XVI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
RGD:7240710
orofaciodigital syndrome XVII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
RGD:7240710
Orofaciodigital Syndrome XVIII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift57 intraflagellar transport 57 JBrowse link 11 53,664,638 53,731,779 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      orofaciodigital syndrome 13
        Joubert syndrome with orofaciodigital defect 1
        Juberg Hayward Syndrome 0
        Orofaciodigital Syndrome 12 0
        Orofaciodigital Syndrome 13 0
        Orofaciodigital Syndrome 2 0
        Orofaciodigital Syndrome XIV 1
        Orofaciodigital Syndrome XV 1
        Orofaciodigital Syndrome XVIII 1
        orofaciodigital syndrome I 1
        orofaciodigital syndrome III 3
        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 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                orofaciodigital syndrome 13
                  Joubert syndrome with orofaciodigital defect 1
                  Juberg Hayward Syndrome 0
                  Orofaciodigital Syndrome 12 0
                  Orofaciodigital Syndrome 13 0
                  Orofaciodigital Syndrome 2 0
                  Orofaciodigital Syndrome XIV 1
                  Orofaciodigital Syndrome XV 1
                  Orofaciodigital Syndrome XVIII 1
                  orofaciodigital syndrome I 1
                  orofaciodigital syndrome III 3
                  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.