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RGD uses the Human Disease Ontology (DO, 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: Catifa syndrome ClinVar PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:227,383,992...227,422,120
Ensembl chr 1:227,387,920...227,436,909
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G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome OMIM
PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    physical disorder 3128
      orofacial cleft 130
        CATIFA Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  Attention Deficit and Disruptive Behavior Disorders 65
                    attention deficit hyperactivity disorder 64
                      CATIFA Syndrome 2
paths to the root