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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:CEBALID Syndrome
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Accession:DOID:9000547 term browser browse the term
Definition:A complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia.
Synonyms:exact_synonym: CEBALID;   MCTT;   MN1 C-terminal truncation syndrome;   craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development
 primary_id: OMIM:618774
For additional species annotation, visit the Alliance of Genome Resources.



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CEBALID Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: CEBALID SYNDROME
ClinVar Annotator: match by term: CEBALID syndrome
ClinVar Annotator: match by term: CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar
OMIM
PMID:22451504 PMID:22965664 PMID:25741868 PMID:28135719 PMID:28330790 More... NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: CEBALID syndrome
ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME
ClinVar Annotator: match by term: CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar PMID:22729223 PMID:23636326 PMID:24625776 PMID:24631838 PMID:25599672 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        CEBALID Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              Neurodevelopmental Disorders 5718
                CEBALID Syndrome 2
paths to the root