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ONTOLOGY REPORT - ANNOTATIONS


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
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CATIFA Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermp1 endoplasmic reticulum metallopeptidase 1 JBrowse link 1 247,784,830 247,821,771 RGD:8554872
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 JBrowse link 1 247,688,778 247,784,219 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    physical disorder 761
      orofacial cleft 118
        CATIFA Syndrome 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  Attention Deficit and Disruptive Behavior Disorders 63
                    attention deficit hyperactivity disorder 61
                      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.