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Eiken syndrome - Ontology Report - Rat Genome Database

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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:Eiken syndrome
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Accession:DOID:0111732 term browser browse the term
Definition:A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: Eiken skeletal dysplasia;   bone modeling defect of hands and feet
 primary_id: MESH:C564010
 alt_id: MIM:600002
 xref: ORDO:79106

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Eiken syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262 		JBrowse link
G G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256 		JBrowse link
G P PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348 		JBrowse link
G S Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
G D PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794 		JBrowse link
G B PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431 		JBrowse link
G C Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471 		JBrowse link
G R Pth1r parathyroid hormone 1 receptor ISO DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome		 CTD
ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G M Pth1r parathyroid hormone 1 receptor ISO DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome		 CTD
ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
G H PTH1R parathyroid hormone 1 receptor IAGP
EXP		 DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      Congenital Foot Deformities 1941
        Eiken syndrome 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        Congenital Abnormalities 85100
          Musculoskeletal Abnormalities 36774
            Congenital Limb Deformities 10915
              Congenital Upper Extremity Deformities 2432
                Congenital Hand Deformities 2071
                  Eiken syndrome 10
paths to the root