ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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blepharophimosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Snx9 sorting nexin 9 JBrowse link 1 46,780,142 46,826,250 RGD:8554872
G Tmem242 transmembrane protein 242 JBrowse link 1 46,302,546 46,329,885 RGD:8554872
G Zdhhc14 zinc finger, DHHC-type containing 14 JBrowse link 1 46,378,807 46,658,527 RGD:8554872
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
RGD:11554173
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:8554872
RGD:7240710
Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Faxc failed axon connections homolog, metaxin like GST domain containing JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
Marden Walker Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarf2 scavenger receptor class F, member 2 JBrowse link 11 87,722,350 87,733,734 RGD:7240710
RGD:8554872
Marden-Walker Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye adnexa disease 124
          eyelid disease 70
            blepharophimosis 20
              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 6
              Krauss Herman Holmes Syndrome 0
              Krieble Bixler Syndrome 0
              Marden Walker Like Syndrome 1
              Marden-Walker Syndrome 1
              Nablus Mask-Like Facial Syndrome 0
              Ohdo syndrome + 3
              blepharophimosis, ptosis, and epicanthus inversus syndrome 3
              blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              eyelid disease 70
                blepharophimosis 20
                  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 6
                  Krauss Herman Holmes Syndrome 0
                  Krieble Bixler Syndrome 0
                  Marden Walker Like Syndrome 1
                  Marden-Walker Syndrome 1
                  Nablus Mask-Like Facial Syndrome 0
                  Ohdo syndrome + 3
                  blepharophimosis, ptosis, and epicanthus inversus syndrome 3
                  blepharophimosis-intellectual disability syndrome, SBBYS type 2
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.