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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 X 157,094,365 157,126,397 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        gonadal disease 849
          hypogonadism 109
            Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            cerebrovascular disease 804
              intracranial arterial disease 236
                cerebral arterial disease 192
                  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.