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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
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Accession:DOID:9000068 term browser browse the term
Synonyms:exact_synonym: LKMCD;   SEMDHL;   X-linked SEMD with mental deterioration;   X-linked spondyloepimetaphyseal dysplasia with mental deterioration;   leukoencephalopathy with metaphyseal chondrodysplasia
 primary_id: MESH:C567065
 alt_id: OMIM:300232
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      bone development disease 1253
        osteochondrodysplasia 426
          spondyloepimetaphyseal dysplasia 74
            X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      musculoskeletal system disease 5527
        connective tissue disease 3992
          bone disease 3456
            bone development disease 1253
              osteochondrodysplasia 426
                spondyloepimetaphyseal dysplasia 74
                  X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
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.