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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Albright hereditary osteodystrophy
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Accession:EFO:Orphanet:665 term browser browse the term
Definition:Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay.
Comment:"orphanet"
Synonyms:xref: ICD10:E20.1;   MESH:C537045;   MIM:103580;   MIM:612462;   MIM:612463;   UMLS:C2931404


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          endocrine system disease 0
            parathyroid disease 0
              hypoparathyroidism 0
                Albright hereditary osteodystrophy 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          head and neck disorder 0
            disease of orbital region 0
              eye disease 0
                Rare genetic eye disease 0
                  Genetic lens and zonula anomaly 0
                    Rare cataract 0
                      Systemic disease with cataract 0
                        Musculoskeletal disease with cataract 0
                          Albright hereditary osteodystrophy 0
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