ONTOLOGY REPORT - ANNOTATIONS


Term:Growth Deficiency and Mental Retardation with Facial Dysmorphism
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Accession:DOID:9002112 term browser browse the term
Synonyms:exact_synonym: HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY;   WDSTS;   WIEDEMANN-STEINER SYNDROME
 primary_id: MESH:C565358;   RDO:0014014
 alt_id: OMIM:605130
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Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        intellectual disability 1158
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
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