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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:blepharophimosis, ptosis, and epicanthus inversus syndrome
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Accession:DOID:14778 term browser browse the term
Definition:A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3. (DO)
Synonyms:exact_synonym: BPES;   blepharophimosis syndrome;   blepharophimosis, ptosis, and epicanthus inversus;   blepharophimosis, ptosis, and epicanthus inversus type I;   blepharophimosis, ptosis, and epicanthus inversus type II;   blepharophimosis, ptosis, epicanthus inversus syndrome
 narrow_synonym: BPES with Duane retraction syndrome;   BPES with ovarian failure;   BPES without ovarian failure;   BPES, type I;   BPES, type I, autosomal recessive;   BPES, type II;   blepharophimosis, ptosis, and epicanthus inversus, type I, autosomal recessive
 primary_id: MESH:C562419
 alt_id: MESH:C566222;   OMIM:110100
For additional species annotation, visit the Alliance of Genome Resources.


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blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus, type I, autosomal recessive
ClinVar
CTD
OMIM
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12149404, PMID:12161610, PMID:12400065, PMID:12529855, PMID:12567411, PMID:12630957, PMID:12938087, PMID:16219626, PMID:16283882, PMID:17089161, PMID:18372316, PMID:19429596, PMID:21325395, PMID:25741868, PMID:30311386, PMID:11175783 RGD:1598958 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      blepharophimosis, ptosis, and epicanthus inversus syndrome 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 471
              ocular motility disease 172
                strabismus 58
                  Duane retraction syndrome 6
                    blepharophimosis, ptosis, and epicanthus inversus syndrome 3
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.