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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
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Accession:DOID:10348 term browser browse the term
Definition:An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (DO)
Synonyms:exact_synonym: blepharophimoses
 primary_id: MESH:D016569
 xref: GARD:5932;   ICD10CM:H02.52;   ICD9CM:374.46
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
blepharophimosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:23806086 PMID:24088041 PMID:24674232 PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr  X:20,871,278...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:46,424,897...46,510,096
Ensembl chr 1:46,423,553...46,509,036
JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:45,992,713...46,019,684
Ensembl chr 1:45,992,713...46,019,626
JBrowse link
G Xirp2 xin actin-binding repeat containing 2 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar NCBI chr 3:52,126,213...52,213,094
Ensembl chr 3:51,870,092...52,213,091
JBrowse link
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:46,069,127...46,340,806
Ensembl chr 1:46,069,127...46,330,488
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
JBrowse link
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 syndrome ClinVar NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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: Blepharophimosis, ptosis, and epicanthus inversus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... RGD:1598958 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar
OMIM
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis OMIM
ClinVar
PMID:25741868 PMID:27939639 PMID:27939640 PMID:32010779 PMID:32652122 NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3b ubiquitin protein ligase E3B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type
CTD
ClinVar
OMIM
PMID:1694631 PMID:14556252 PMID:23200864 PMID:23687348 PMID:24615390 More... NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Marden-Walker syndrome OMIM
ClinVar
PMID:24726473 PMID:25741868 PMID:28492532 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
Ohdo syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
OMIM
ClinVar
RGD
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... RGD:12910951 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
Van den Ende-Gupta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Van den Ende-Gupta syndrome OMIM
ClinVar
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      blepharophimosis 17
        Acrootoocular Syndrome 0
        Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
        Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
        Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
        Coloboma of Alar-Nasal Cartilages with Telecanthus 0
        Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
        Jorgenson Lenz Syndrome 0
        Kaufman oculocerebrofacial syndrome 1
        Krauss Herman Holmes Syndrome 0
        Krieble Bixler Syndrome 0
        Marden-Walker Syndrome 1
        Nablus Mask-Like Facial Syndrome 0
        Ohdo syndrome + 3
        Van den Ende-Gupta syndrome 1
        blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            eyelid disease 105
              blepharophimosis 17
                Acrootoocular Syndrome 0
                Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
                Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
                Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
                Coloboma of Alar-Nasal Cartilages with Telecanthus 0
                Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
                Jorgenson Lenz Syndrome 0
                Kaufman oculocerebrofacial syndrome 1
                Krauss Herman Holmes Syndrome 0
                Krieble Bixler Syndrome 0
                Marden-Walker Syndrome 1
                Nablus Mask-Like Facial Syndrome 0
                Ohdo syndrome + 3
                Van den Ende-Gupta syndrome 1
                blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
paths to the root