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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
ClinVar
OMIM
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28842795 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28842795 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      bone development disease 1371
        osteochondrodysplasia 449
          spondyloepimetaphyseal dysplasia 75
            X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3041
            bone development disease 1371
              osteochondrodysplasia 449
                spondyloepimetaphyseal dysplasia 75
                  X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
paths to the root