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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: MIM:300232


show annotations for term's descendants           Sort by:
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: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD 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 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      bone development disease 2370
        osteochondrodysplasia 867
          spondyloepimetaphyseal dysplasia 88
            X-linked spondyloepimetaphyseal dysplasia 4
              X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              osteochondrodysplasia 867
                spondyloepimetaphyseal dysplasia 88
                  X-linked spondyloepimetaphyseal dysplasia 4
                    X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
paths to the root