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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 16909
    Developmental Disease 10557
      bone development disease 1326
        osteochondrodysplasia 447
          spondyloepimetaphyseal dysplasia 78
            X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                spondyloepimetaphyseal dysplasia 78
                  X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
paths to the root