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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


show annotations for term's descendants           Sort by:
metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyle metaphyseal dysplasia | ClinVar Annotator: match by term: Pyle's disease		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27355534 PMID:28492532 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type ClinVar NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7701349 PMID:8076140 PMID:8703170 PMID:9536098 PMID:10487664 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia variant, skeletal manifestations only ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar		 PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More... NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:156500
ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE		 OMIM
CTD
MouseDO
ClinVar		 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 term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE ClinVar PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 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 Qualifiers 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
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More... NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752 		JBrowse link
G Sbds Sbds, ribosome maturation factor susceptibility ISO
ISS		 DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
OMIM:260400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:72,587,584...72,626,878
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 18976
    Developmental Disease 14397
      bone development disease 2307
        osteochondrodysplasia 861
          metaphyseal dysplasia 14
            IMAGEI Syndrome 1
            Jansen's metaphyseal chondrodysplasia 2
            Metaphyseal Dysplasia without Hypotrichosis 1
            Metaphyseal Dysplasia, Braun-Tinschert Type 0
            Schmid metaphyseal chondrodysplasia 2
            Shwachman-Diamond syndrome 6
            osteosclerotic metaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                metaphyseal dysplasia 14
                  IMAGEI Syndrome 1
                  Jansen's metaphyseal chondrodysplasia 2
                  Metaphyseal Dysplasia without Hypotrichosis 1
                  Metaphyseal Dysplasia, Braun-Tinschert Type 0
                  Schmid metaphyseal chondrodysplasia 2
                  Shwachman-Diamond syndrome 6
                  osteosclerotic metaphyseal dysplasia 1
paths to the root