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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ZIEGLER-HUANG SYNDROME
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Accession:DOID:9007427 term browser browse the term
Definition:This disease is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood.
Synonyms:exact_synonym: BMFS8;   BONE MARROW FAILURE SYNDROME 8;   ZHS
 primary_id: OMIM:620501


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ZIEGLER-HUANG SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Ziegler-Huang syndrome ClinVar
OMIM		 PMID:25741868 PMID:36821639 NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Pathologic Processes 7988
        Growth Disorders 1012
          ZIEGLER-HUANG SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        Male Urogenital Diseases 2012
          male reproductive system disease 2012
            testicular disease 180
              ZIEGLER-HUANG SYNDROME 1
paths to the root