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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:The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
Synonyms:exact_synonym: Blepharophimoses
 primary_id: MESH:D016569;   RDO:0001276
 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 Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:23806086, PMID:24088041, PMID:24674232 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:28492532, PMID:30311386 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
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:21,474,627...21,603,348
Ensembl chr  X:21,499,934...21,598,876
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:30311386 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:46,780,142...46,826,250
Ensembl chr 1:46,779,860...46,825,830
JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:46,302,546...46,329,885
Ensembl chr 1:46,302,970...46,329,682
JBrowse link
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:46,378,807...46,658,527
Ensembl chr 1:46,378,807...46,649,292
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:30311386 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
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 ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12567411, PMID:12630957, PMID:12938087, PMID:16219626, PMID:17089161, PMID:18372316, PMID:20429427, PMID:21889601, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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 syndrome type 2 ClinVar PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:18372316, PMID:21325395, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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 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 term: Blepharophimosis, ptosis, and epicanthus inversus, type I, autosomal recessive
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
ClinVar Annotator: match by OMIM:110100
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
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25741868, PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
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: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25424711, PMID:25741868, PMID:26334766, PMID:26938784, PMID:27696664, PMID:28758091, PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis
ClinVar
OMIM
PMID:25741868, PMID:27884168, PMID:27939639, PMID:27939640 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
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 ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:23200864, PMID:24615390, PMID:25356970, PMID:25741868, PMID:28003368 NCBI chr12:47,946,691...47,991,973
Ensembl chr12:47,948,247...47,990,105
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
ClinVar Annotator: match by OMIM:248700
OMIM
ClinVar
PMID:24726473, PMID:25741868 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
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
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
ClinVar Annotator: match by OMIM:300895
OMIM
ClinVar
PMID:8279489, PMID:16700052, PMID:23395478, PMID:25326637, PMID:25741868, PMID:23395478 RGD:12910951 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
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: Marden Walker like syndrome
ClinVar Annotator: match by OMIM:600920
OMIM
ClinVar
PMID:20887961, PMID:21108395, PMID:23808541, PMID:24478002 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        eyelid disease 111
          blepharophimosis 19
            Acrootoocular Syndrome 0
            Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
            Blepharophimosis Syndrome Type 1 1
            Blepharophimosis Syndrome Type 2 1
            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 1
            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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Abnormalities 365
              blepharophimosis 19
                Acrootoocular Syndrome 0
                Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
                Blepharophimosis Syndrome Type 1 1
                Blepharophimosis Syndrome Type 2 1
                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 1
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.