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spondylometaphyseal dysplasia Megarbane-Dagher-Melike type - 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:spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
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Accession:DOID:0112304 term browser browse the term
Definition:A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: Chondrodysplasia, Megarbane-Dagher-Melki Type;   Megarbane-Dagher-Melike type chondrodysplasia;   Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia;   PAM16-RELATED CONDITION;   SMDMDM;   spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
 primary_id: MESH:C567644
 alt_id: DOID:9005899;   MIM:613320
 xref: ORDO:401979

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spondylometaphyseal dysplasia Megarbane-Dagher-Melike type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type		 ClinVar PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494 		JBrowse link
G P LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151 		JBrowse link
G N Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chrNW_004624746:18,235,774...18,237,603 JBrowse link
G G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr 5:4,020,116...4,031,233 JBrowse link
G S Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chrNW_004936694:153,958...161,635
Ensembl chrNW_004936694:153,959...161,635 		JBrowse link
G D PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr 6:37,040,484...37,047,708 JBrowse link
G B PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:3,243,435...3,248,815
Ensembl chr16:4,418,006...4,515,038 		JBrowse link
G C Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chrNW_004955442:13,087,082...13,097,048
Ensembl chrNW_004955442:13,087,092...13,097,048 		JBrowse link
G R Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr10:11,449,316...11,457,071
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G M Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G H PAM16 presequence translocase associated motor 16 IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type		 ClinVar
OMIM		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      bone development disease 24312
        Dwarfism 8728
          spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Skin and Connective Tissue Diseases 92289
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              osteochondrodysplasia 9137
                spondylometaphyseal dysplasia 159
                  spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 11
paths to the root