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ONTOLOGY REPORT - ANNOTATIONS


Term:Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
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Accession:DOID:9001181 term browser browse the term
Synonyms:exact_synonym: CHROMOSOME XQ28 DELETION SYNDROME;   CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB;   MYMY4;   SYNDROMIC MOYAMOYA DISEASE
 primary_id: OMIM:300845;   RDO:0010083
For additional species annotation, visit the Alliance of Genome Resources.


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Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcap31 B cell receptor associated protein 31 JBrowse link NW_004955580 429,223 459,168 RGD:9068941
G Slc6a8 solute carrier family 6 member 8 JBrowse link NW_004955580 419,696 426,727 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11656
    disease of anatomical entity 11346
      endocrine system disease 3887
        gonadal disease 808
          hypogonadism 109
            Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 11656
    disease of anatomical entity 11346
      nervous system disease 9243
        central nervous system disease 7753
          brain disease 7117
            cerebrovascular disease 717
              intracranial arterial disease 219
                cerebral arterial disease 179
                  Moyamoya disease 7
                    Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and 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.