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ONTOLOGY REPORT - ANNOTATIONS


Term:septooptic dysplasia
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Accession:DOID:0060857 term browser browse the term
Definition:A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
Synonyms:exact_synonym: De Morsier syndrome;   SOD;   septo optic dysplasia with growth hormone deficiency;   septo-optic dysplasia;   septo-optic dysplasia sequence;   septooptic dysplasias
 narrow_synonym: SEPTOOPTIC DYSPLASIA, MILD
 primary_id: MESH:D025962
 alt_id: OMIM:182230
 xref: GARD:7627;   NCI:C85063;   ORDO:3157
For additional species annotation, visit the Alliance of Genome Resources.


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septooptic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:12801420
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:1601424
RGD:8554872
RGD:7240710
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta JBrowse link 3 154,910,291 154,983,021 RGD:8554872
bilateral optic nerve hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:8554872
RGD:11554173
Marshall-Smith syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Ier2 immediate early response 2 JBrowse link 19 25,774,146 25,775,670 RGD:8554872
G Lyl1 LYL1, basic helix-loop-helix family member JBrowse link 19 25,815,207 25,818,074 RGD:8554872
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:8554872
G Nfix nuclear factor I X JBrowse link 19 25,818,640 25,914,777 RGD:7240710
RGD:8554872
G Trmt1 tRNA methyltransferase 1 JBrowse link 19 25,798,262 25,813,458 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      septooptic dysplasia 10
        Absence of Septum Pellucidum 0
        Combined Pituitary Hormone Deficiency, 5 1
        Marshall-Smith syndrome 6
        Pagon Stephan Syndrome 0
        bilateral optic nerve hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              septooptic dysplasia 10
                Absence of Septum Pellucidum 0
                Combined Pituitary Hormone Deficiency, 5 1
                Marshall-Smith syndrome 6
                Pagon Stephan Syndrome 0
                bilateral optic nerve hypoplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.