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ONTOLOGY REPORT - ANNOTATIONS


Term:Hermansky-Pudlak Syndrome 10
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Accession:DOID:9006228 term browser browse the term
Definition:An autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. (OMIM)
Synonyms:exact_synonym: HPS10
 primary_id: OMIM:617050;   RDO:9001593
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Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      oculocutaneous albinism 35
        Syndromic Oculocutaneous Albinism 25
          Hermansky-Pudlak syndrome 24
            Hermansky-Pudlak Syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            pigmentation disease 215
              Hypopigmentation 102
                Albinism 47
                  oculocutaneous albinism 35
                    Syndromic Oculocutaneous Albinism 25
                      Hermansky-Pudlak syndrome 24
                        Hermansky-Pudlak Syndrome 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.