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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:27355534 NCBI chr17:47,383,983...47,394,065
Ensembl chr17:47,297,489...47,394,328
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, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30503519 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
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:15240651, PMID:18559376, PMID:25741868, PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:16097009, PMID:16254002, PMID:16838329, PMID:17701897, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
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, PMID:8220429, PMID:8304336, PMID:8554571, PMID:8986632, PMID:9067753, PMID:9525992, PMID:9837818, PMID:9852679, PMID:10991694, PMID:12554676, PMID:12584438, PMID:17403716, PMID:19035365, PMID:25741868, PMID:28492532 NCBI chr20:41,180,295...41,190,664
Ensembl chr20:41,184,287...41,189,633
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, PMID:8554571, PMID:8986632, PMID:9067753, PMID:9525992, PMID:9837818, PMID:9852679, PMID:10991694, PMID:12554676, PMID:12584438, PMID:25741868, PMID:28492532 NCBI chr20:41,106,990...41,209,765
Ensembl chr20:41,106,991...41,209,728
JBrowse link
spondylometaphyseal dysplasia Kozlowski type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: SMD Kozlowski type
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type
ClinVar Annotator: match by OMIM:184252
OMIM
ClinVar
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21658220, PMID:21964574, PMID:22419508, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26392352, PMID:26467025, PMID:27330106, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          metaphyseal dysplasia 7
            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 type metaphyseal dysplasia 0
            spondylometaphyseal dysplasia Kozlowski type 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                metaphyseal dysplasia 7
                  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 type metaphyseal dysplasia 0
                  spondylometaphyseal dysplasia Kozlowski type 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.