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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:metaphyseal dysplasia
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Accession:DOID:0080019 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. (DO)
Synonyms:exact_synonym: Bakwin-Krida syndrome;   Edwin Pyle disease;   PYL;   Pyle disease;   Pyle metaphyseal dysplasia;   Pyle's disease;   Pyle-Cohn syndrome;   metaphyseal dysplasia with little involvement of the cranial bones;   metaphyseal dysplasia, Pyle type
 primary_id: MESH:C536252
 alt_id: OMIM:265900
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
metaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sfrp4 secreted frizzled-related protein 4 ISO ClinVar Annotator: match by term: Pyle metaphyseal dysplasia ClinVar
OMIM
PMID:25741868 PMID:27355534 PMID:33193738 NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY ClinVar
OMIM
PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:156400
ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type
ClinVar
OMIM
PMID:7701349 PMID:8076140 PMID:8703170 PMID:10487664 PMID:18559376 More... NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
Metaphyseal Dysplasia without Hypotrichosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia without hypotrichosis ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
JBrowse link
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:156500
OMIM
ClinVar
CTD
PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 More... NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by synonym: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
ClinVar PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8304336 More... NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591
JBrowse link
Shwachman-Diamond syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar Annotator: match by term: Shwachman syndrome
ClinVar Annotator: match by OMIM:260400
ClinVar
OMIM
RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Shwachman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28972538 PMID:29914977 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          metaphyseal dysplasia 12
            IMAGEI Syndrome 1
            Jansen's metaphyseal chondrodysplasia 1
            Metaphyseal Dysplasia without Hypotrichosis 1
            Metaphyseal Dysplasia, Braun-Tinschert Type 0
            Schmid metaphyseal chondrodysplasia 2
            Shwachman-Diamond syndrome 6
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                metaphyseal dysplasia 12
                  IMAGEI Syndrome 1
                  Jansen's metaphyseal chondrodysplasia 1
                  Metaphyseal Dysplasia without Hypotrichosis 1
                  Metaphyseal Dysplasia, Braun-Tinschert Type 0
                  Schmid metaphyseal chondrodysplasia 2
                  Shwachman-Diamond syndrome 6
paths to the root