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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Prader-Willi syndrome
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Accession:EFO:MONDO:0008300 term browser browse the term
Definition:Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.
Synonyms:exact_synonym: Prader-Labhart-Willi syndrome
 related_synonym: PWS;   Prader-Willi syndrome chromosome region;   Prader-Willi-like syndrome associated with chromosome 6;   obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet;   obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet
 alt_id: MONDO:0008300
 xref: DOID:11983;   GARD:5575;   ICD9:759.81;   MEDGEN:46057;   MESH:D011218;   MIM:176270;   MedDRA:10036476;   NANDO:1200678;   NANDO:2200411;   NCI:C75463;   NORD:1602;   ORDO:739;   SCTID:89392001;   UMLS:C0032897;   icd11.foundation:393773440
 see_also: https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome" xsd:anyURI {source="GARD:0005575


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Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Prader-Willi syndrome 0
              Prader-Willi syndrome due to imprinting mutation 0
              Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0
              Prader-Willi syndrome due to paternal 15q11q13 deletion + 0
              Prader-Willi syndrome due to point mutation 0
              Prader-Willi syndrome due to translocation 0
              Prader-Willi-like syndrome due to point mutation 0
              Schaaf-Yang syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          reproductive system disease 0
            gonadal disorder 0
              hypogonadism 0
                hypogonadotropic hypogonadism 0
                  congenital hypogonadotropic hypogonadism 0
                    Prader-Willi syndrome 0
                      Prader-Willi syndrome due to imprinting mutation 0
                      Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0
                      Prader-Willi syndrome due to paternal 15q11q13 deletion + 0
                      Prader-Willi syndrome due to point mutation 0
                      Prader-Willi syndrome due to translocation 0
                      Prader-Willi-like syndrome due to point mutation 0
                      Schaaf-Yang syndrome 0
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