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septooptic dysplasia - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:septooptic dysplasia
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Accession:EFO:MONDO:0008428 term browser browse the term
Definition:Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Synonyms:exact_synonym: DOID:0060857;   De Morsier syndrome;   NCIT:C85063;   Orphanet:3157;   SOD;   http://identifiers.org/medgen/90926;   http://identifiers.org/mesh/D025962;   http://identifiers.org/snomedct/7611002;   http://linkedlifedata.com/resource/umls/id/C0338503;   https://omim.org/entry/182230;   septo-optic dysplasia;   septo-optic dysplasia sequence
 synonym: http://identifiers.org/meddra/10067159
 related_synonym: Growth hormone deficiency with pituitary anomalies;   hypopituitarism and septooptic 'dysplasia';   pituitary hormone deficiency, combined, 5;   septo-optic dysplasia spectrum;   septo-optic dysplasia with growth hormone deficiency
 alt_id: MONDO:0008428
 xref: DOID:0060857;   GARD:7627;   MEDGEN:90926;   MESH:D025962;   MIM:182230;   MedDRA:10067159;   NANDO:1200560;   NANDO:1200561;   NANDO:2200820;   NCI:C85063;   ORDO:3157;   SCTID:7611002;   UMLS:C0338503

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            septooptic dysplasia 0
Path 2
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  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
                    combined pituitary hormone deficiencies, genetic form 0
                      septooptic dysplasia 0
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