Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:septooptic dysplasia
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
septooptic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO RGD PMID:27935818 RGD:12801420 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Hesx1 HESX homeobox 1 ISO DNA:transition:CDS:p.R160C (478C>T) human
ClinVar Annotator: match by term: Septo-optic dysplasia sequence
ClinVar Annotator: match by term: Septooptic dysplasia, mild
ClinVar
OMIM
PMID:8696006 PMID:9620767 PMID:10599689 PMID:11136712 PMID:11748154 PMID:14557462 PMID:17148560 PMID:19093031 PMID:21270112 PMID:21325470 PMID:22466334 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532, PMID:9620767 RGD:1601424 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:25741868 NCBI chr 3:154,910,291...154,983,021
Ensembl chr 3:154,905,141...154,983,021
JBrowse link
bilateral optic nerve hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral OMIM
ClinVar
PMID:12721955 PMID:25741868 PMID:28488383 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Combined Pituitary Hormone Deficiency, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 5
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
Marshall-Smith syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,774,146...25,775,670
Ensembl chr19:25,774,143...25,775,659
JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,815,207...25,818,074
Ensembl chr19:25,815,207...25,818,074
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marshall-Smith syndrome
ClinVar Annotator: match by OMIM:602535
OMIM
ClinVar
PMID:8910820 PMID:9536098 PMID:9717599 PMID:16086394 PMID:17576681 PMID:20673863 PMID:22301465 PMID:24924640 PMID:25118028 PMID:25356970 PMID:25741868 PMID:26193383 PMID:26200704 PMID:28475857 PMID:28492532 PMID:29897170 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,798,262...25,813,458
Ensembl chr19:25,803,262...25,813,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      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 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              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