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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:CATIFA Syndrome
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Accession:DOID:9005601 term browser browse the term
Definition:A disease characterized by global developmental delay, impaired intellectual development, and ADHD. Patients show an elongated face with long philtrum, small ears, ocular anomalies, orofacial cleft and misaligned teeth.
Synonyms:exact_synonym: CATIFA;   cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder
 primary_id: OMIM:618761
For additional species annotation, visit the Alliance of Genome Resources.


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CATIFA Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 1:247,784,830...247,821,771
Ensembl chr 1:247,787,582...247,821,728
JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER OMIM
ClinVar
PMID:27878435, PMID:31932796 NCBI chr 1:247,688,778...247,784,219
Ensembl chr 1:247,688,789...247,781,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      orofacial cleft 125
        CATIFA Syndrome 2
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
                  Attention Deficit and Disruptive Behavior Disorders 67
                    attention deficit hyperactivity disorder 66
                      CATIFA Syndrome 2
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.