Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:otopalatodigital syndrome spectrum disorder
go back to main search page
Accession:DOID:0111782 term browser browse the term
Definition:A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (DO)
Synonyms:exact_synonym: OPD spectrum disorder;   OPSD;   fronto-otopalatodigital osteodysplasia;   otopalatodigital spectrum disorder
 primary_id: MESH:C567577
 xref: ORDO:364541
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
otopalatodigital syndrome spectrum disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by null
DNA:deletion:cds:c.4904_4912del (human)
ClinVar PMID:15654694 PMID:16596676 PMID:15654694 RGD:11565126 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by OMIM:249420
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by term: Frank-Ter Haar syndrome
OMIM
ClinVar
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
JBrowse link
frontometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
CTD
ClinVar
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
JBrowse link
frontometaphyseal dysplasia 1 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: FRONTOMETAPHYSEAL DYSPLASIA 1
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1
DNA:missense mutations, deletions:cds:multiple (human)
OMIM
ClinVar
PMID:9071288 PMID:15523633 PMID:15917206 PMID:16596676 PMID:16835913 More... RGD:11063279 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
frontometaphyseal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 2
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2
ClinVar
OMIM
PMID:12503106 PMID:25741868 PMID:25899317 PMID:27426733 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
JBrowse link
Melnick-Needles 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: Melnick-Needles syndrome
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
OMIM
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
otopalatodigital syndrome type 1 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: Oto-palato-digital syndrome, type I
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
ClinVar Annotator: match by term: OPD I SYNDROME
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:311300
OMIM
ClinVar
CTD
PMID:12612583 PMID:15194946 PMID:15917206 PMID:15940695 PMID:16596676 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
otopalatodigital syndrome type 2 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: Otopalatodigital Syndrome, Type II
ClinVar Annotator: match by term: OPD II SYNDROME
DNA:missense mutation:cds:p.E254K (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:304120
OMIM
ClinVar
CTD
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15378534 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      bone development disease 1414
        osteochondrodysplasia 478
          otopalatodigital syndrome spectrum disorder 4
            Frank-Ter Haar syndrome 1
            Melnick-Needles syndrome 1
            frontometaphyseal dysplasia + 2
            otopalatodigital syndrome type 1 2
            otopalatodigital syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Congenital Limb Deformities 456
              Congenital Upper Extremity Deformities 90
                Congenital Hand Deformities 75
                  otopalatodigital syndrome spectrum disorder 4
                    Frank-Ter Haar syndrome 1
                    Melnick-Needles syndrome 1
                    frontometaphyseal dysplasia + 2
                    otopalatodigital syndrome type 1 2
                    otopalatodigital syndrome type 2 1
paths to the root