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ONTOLOGY REPORT - ANNOTATIONS


Term:Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
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Accession:DOID:9009336 term browser browse the term
Definition:Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. SSASKS is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31. (OMIM)
Synonyms:exact_synonym: SSASKS
 primary_id: OMIM:618363
For additional species annotation, visit the Alliance of Genome Resources.


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Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc10a7 solute carrier family 10, member 7 JBrowse link 19 32,857,984 33,081,359 RGD:7240710

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Term Annotations click to browse term
  disease 14926
    Pathological Conditions, Signs and Symptoms 7756
      Pathologic Processes 4936
        Growth Disorders 245
          Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        sensory system disease 4270
          mouth disease 665
            tooth disease 227
              teeth hard tissue disease 38
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.