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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: WDSTS;   Wiedemann-Steiner syndrome;   hairy elbows, short stature, facial dysmorphism, and developmental delay
 primary_id: MESH:C565358
 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 16021
    Developmental Diseases 9337
      Neurodevelopmental Disorders 4303
        intellectual disability 1940
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal dominant disease 2754
                complex cortical dysplasia with other brain malformations 528
                  Malformations of Cortical Development, Group I 378
                    microcephaly 222
                      Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.