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ONTOLOGY REPORT - ANNOTATIONS


Term:Skraban-Deardorff Syndrome
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Accession:DOID:9006821 term browser browse the term
Definition:A syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip. (OMIM)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES;   SKDEAS
 primary_id: OMIM:617616
 alt_id: RDO:9005197
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Skraban-Deardorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr26 WD repeat domain 26 JBrowse link 13 99,493,117 99,532,775 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
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  disease 15553
    syndrome 5224
      Skraban-Deardorff Syndrome 1
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              Neurodevelopmental Disorders 4095
                Skraban-Deardorff Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.