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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:Cerebrofaciothoracic Dysplasia
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Accession:DOID:9006917 term browser browse the term
Synonyms:exact_synonym: CFSMR;   Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
 primary_id: MESH:C565862
 alt_id: OMIM:213980
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebrofaciothoracic Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by synonym: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
OMIM
ClinVar
PMID:17351359 PMID:20018682 PMID:23320496 PMID:23806086 PMID:24033266 More... NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Neurodevelopmental Disorders 5692
        intellectual disability 3446
          Cerebrofaciothoracic Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    Cerebrofaciothoracic Dysplasia 1
paths to the root