Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandEyelid Diseases (D005141)
..Starting node
..expandBlepharophimosis (D016569)

       Child Nodes:
........expandAcrootoocular Syndrome (C564866)
........expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
........expandBlepharophimosis syndrome Ohdo type (C536232)
........expandBlepharophimosis syndrome type 1 (C536233)
........expandBlepharophimosis syndrome type 2 (C536234)
........expandBlepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
........expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
........expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
........expandBpes With Duane Retraction Syndrome (C566222)
........expandColoboma of Alar-nasal cartilages with telecanthus (C535967)
........expandJorgenson Lenz syndrome (C536292)
........expandKrauss Herman Holmes syndrome (C537618)
........expandKrieble Bixler syndrome (C537619)
........expandMarden Walker like syndrome (C535909)
........expandMarden-Walker syndrome (C535910)
........expandNablus mask-like facial syndrome (C536110)
........expandYoung Simpson syndrome (C536717)



 Sister Nodes: 
..expandBarber Say syndrome (C537908)
..expandBlepharitis (D001762) Child1
..expandBlepharochalasis, Superior (C566223)
..expandBlepharophimosis (D016569) Child17
..expandBlepharoptosis (D001763) Child24
..expandBlepharospasm (D001764) Child2
..expandChalazion (D017043)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandCurly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..expandEccrine Syringofibroadenomatosis with Eyelid Abnormalities (C566347)
..expandEctropion (D004483) Child2
..expandEntropion (D004774)
..expandEpiblepharon of Upper Lid (C565051)
..expandEyelid Neoplasms (D005142) Child2
..expandHordeolum (D006726)
..expandHyperpigmentation of Eyelids (C562400)
..expandTrichiasis (D058457)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1312
Name:Blepharophimosis
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)
Alternative IDs:
ParentIDs:MESH:D005124|MESH:D005141
TreeNumbers:C11.250.090 |C11.338.190 |C16.131.384.190
Synonyms:Blepharophimoses
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: D016569
MeSH: D016569
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants