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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: HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY;   WDSTS;   WIEDEMANN-STEINER SYNDROME
 primary_id: MESH:C565358;   RDO:0014014
 alt_id: OMIM:605130
For additional species annotation, visit the Alliance of Genome Resources.


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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 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  Malformations of Cortical Development, Group I 334
                    microcephaly 206
                      Growth Deficiency and Mental Retardation with Facial Dysmorphism 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.