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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, PMID:24088041, PMID:24194475, PMID:24424126, PMID:25741868, PMID:31102500, PMID:32214227 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Cerebrofaciothoracic Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Cerebrofaciothoracic Dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.