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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
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Accession:DOID:0060857 term browser browse the term
Definition:A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. (DO)
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


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 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:28492532 PMID:32796691 NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:25741868 PMID:35885948 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Asb14 ankyrin repeat and SOCS box-containing 14 ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:28492532 PMID:32796691 NCBI chr16:2,095,567...2,123,259
Ensembl chr16:2,095,644...2,115,135 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO RGD PMID:27935818 RGD:12801420 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Hesx1 HESX homeobox 1 ISO
ISS		 DNA:transition:CDS:p.R160C (478C>T) human
OMIM:182230
ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia, mild		 MouseDO
ClinVar
OMIM
RGD		 PMID:2700987 PMID:8696006 PMID:9536098 PMID:9620767 PMID:10599689 More... RGD:1601424 NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:28492532 PMID:32796691 NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556 		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 3:147,062,443...147,152,090
Ensembl chr 3:147,062,364...147,152,090 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:25741868 PMID:35885948 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Septo-optic dysplasia sequence ClinVar PMID:16283891 PMID:16892407 PMID:16932809 PMID:18285410 PMID:18831064 More... NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12634864 PMID:12721955 PMID:25741868 PMID:28488383 PMID:28492532 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 5		 CTD
ClinVar		 PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 PMID:18852528 More... NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		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:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
G Nfix nuclear factor I X ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Marshall-Smith syndrome		 OMIM
CTD
ClinVar		 PMID:8910820 PMID:9536098 PMID:9717599 PMID:16086394 PMID:16199547 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      septooptic dysplasia 16
        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 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              septooptic dysplasia 16
                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