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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:craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
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Accession:DOID:0081072 term browser browse the term
Definition:A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (DO)
Synonyms:exact_synonym: CFSMR;   Cerebro-facio-thoracic dysplasia;   Cerebrofaciothoracic Dysplasia;   Pascual-Castroviejo syndrome;   TMCO1 defect syndrome
 primary_id: MESH:C565862
 alt_id: DOID:9006917
 xref: GARD:1210;   OMIM:PS213980;   ORDO:1394


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craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ClinVar PMID:24194475 PMID:35614220 NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO
ISS		 ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
OMIM:213980		 ClinVar
MouseDO		 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 		JBrowse link
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmco1 transmembrane and coiled-coil domains 1 ISO OMIM NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ClinVar
OMIM		 PMID:24194475 PMID:35614220 NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2
        craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 1
        craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2
                      craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 1
                      craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 1
paths to the root