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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:otopalatodigital syndrome spectrum disorder
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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:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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, PMID:24105366, PMID:25741868, PMID:28492532, PMID:29276006 NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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, PMID:16299064, PMID:16417552, PMID:16596676, PMID:16822260, PMID:17264970, PMID:17632775, PMID:18414213, PMID:18805826, 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 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
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, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532, PMID:31064749, PMID:16835913 RGD:11063279 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
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, PMID:16299064, PMID:16417552, PMID:16822260, PMID:17264970, PMID:17632775, PMID:18414213, PMID:18805826, 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
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: 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, PMID:17264970, PMID:18414213, PMID:25741868, PMID:28492532, PMID:29300383, PMID:12612583 RGD:1598954 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
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, 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, PMID:12612583 RGD:1598954 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      bone development disease 1330
        osteochondrodysplasia 435
          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 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Musculoskeletal Abnormalities 1755
            Congenital Limb Deformities 503
              Congenital Upper Extremity Deformities 87
                Congenital Hand Deformities 71
                  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

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