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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 Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		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:20,873,795...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 chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 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 PMID:25741868 NCBI chr 3:72,534,175...72,621,056
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, AND EPICANTHUS INVERSUS, TYPE I | 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, TYPE II | 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
ISS 		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 | ClinVar Annotator: match by term: FOXL2-related condition
OMIM:110100
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
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-impaired intellectual development syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome OMIM
ClinVar		 PMID:22366787 PMID:23929686 PMID:24090879 PMID:25533962 PMID:25741868 More... 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: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis OMIM
ClinVar		 PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 More... NCBI chr 4:148,011,977...148,028,431
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...84,545,791
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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition
OMIM:244450 		CTD
ClinVar
MouseDO
OMIM		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 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: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:24726473 PMID:25741868 PMID:28492532 PMID:30988732 PMID:31589614 More... 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:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
Ohdo syndrome, SBBYS variant 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 Annotator: match by term: KAT6B-related multiple congenital anomalies syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 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
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		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:70,444,615...70,467,780
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: SCARF2-related condition | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 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 19143
    physical disorder 5203
      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 + 4
        Van den Ende-Gupta syndrome 1
        blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
        blepharophimosis-impaired intellectual development syndrome 1
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              eyelid disease 116
                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 + 4
                  Van den Ende-Gupta syndrome 1
                  blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
                  blepharophimosis-impaired intellectual development syndrome 1
paths to the root