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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:frontometaphyseal dysplasia 2
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Accession:DOID:0111787 term browser browse the term
Definition:A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. (DO)
Synonyms:exact_synonym: FMD2
 primary_id: OMIM:617137
For additional species annotation, visit the Alliance of Genome Resources.



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frontometaphyseal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 2
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2
ClinVar
OMIM
PMID:12503106 PMID:25741868 PMID:25899317 PMID:27426733 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      bone development disease 1424
        osteochondrodysplasia 478
          otopalatodigital syndrome spectrum disorder 4
            frontometaphyseal dysplasia 2
              frontometaphyseal dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        Congenital Abnormalities 5594
          Musculoskeletal Abnormalities 2240
            Congenital Limb Deformities 458
              Congenital Upper Extremity Deformities 92
                Congenital Hand Deformities 77
                  otopalatodigital syndrome spectrum disorder 4
                    frontometaphyseal dysplasia 2
                      frontometaphyseal dysplasia 2 1
paths to the root