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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ANE syndrome
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Accession:EFO:MONDO:0012794 term browser browse the term
Definition:ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
Synonyms:exact_synonym: DOID:0112244;   Orphanet:157954;   alopecia-progressive neurological defect-endocrinopathy syndrome;   http://identifiers.org/medgen/394313;   http://identifiers.org/mesh/C567425;   http://linkedlifedata.com/resource/umls/id/C2677535;   https://omim.org/entry/612079
 related_synonym: alopecia, neurologic defects, and endocrinopathy syndrome;   anes
 alt_id: MONDO:0012794
 xref: DOID:0112244;   GARD:16987;   MEDGEN:394313;   MESH:C567425;   MIM:612079;   ORDO:157954;   UMLS:C2677535


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Path 1
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            ANE syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          endocrine system disease 0
            gonadal disorder 0
              hypogonadism 0
                hypogonadotropic hypogonadism 0
                  congenital hypogonadotropic hypogonadism 0
                    ANE syndrome 0
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