Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Entire palpebral fissure (body structure) |
Is a |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Lateral tarsorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Medial tarsorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Tissue glue protective tarsorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Frost suture to eyelids |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Height of palpebral fissure |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Palpebral fissure finding |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Upward slant of palpebral fissure |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Downward slant of palpebral fissure |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Short palpebral fissure |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Telecanthus |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Finding of measures of palpebral fissure |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Narrowing of palpebral fissure |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of canthorrhaphy with transposition of tarsal plate |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Enlargement of palpebral fissure (procedure) |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Blepharorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Construction of median tarsorrhaphy with transposition of tarsal plate |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of canthorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Repair of blepharophimosis |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of median tarsorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Blefarofimosesyndrom |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Coloboma of eyelid |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Revision of tarsorrhaphy |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Tarsorrhaphy NEC |
Procedure site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Narrowing of palpebral fissure |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Palpebral fissure finding (finding) |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Senile blepharophimosis |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Spastic blepharophimosis |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Cicatricial blepharophimosis |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Acquired blepharophimosis |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Other blepharophimosis |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Lateral tarsorrhaphy |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Medial tarsorrhaphy |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Tissue glue protective tarsorrhaphy |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Tissue glue protective tarsorrhaphy |
Procedure site - Indirect (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Narrowing of palpebral fissure |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of canthorrhaphy with transposition of tarsal plate |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Enlargement of palpebral fissure (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Blepharorrhaphy |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of median tarsorrhaphy with transposition of tarsal plate |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Construction of canthorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Repair of blepharophimosis |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of median tarsorrhaphy |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Revision of tarsorrhaphy |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Tarsorrhaphy NEC |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of median tarsorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Medial tarsorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Other blepharophimosis |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Tissue glue protective tarsorrhaphy |
Procedure site - Indirect (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Tissue glue protective tarsorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Narrowing of palpebral fissure |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Blepharorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Acquired scleral show due to eyelid deformity (finding) |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Senile blepharophimosis |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Cicatricial blepharophimosis |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Scleral show (finding) |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Spastic blepharophimosis |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Narrowing of palpebral fissure |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Acquired blepharophimosis |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Blefarofimosesyndrom |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Tarsorrhaphy NEC |
Procedure site - Direct (attribute) |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Repair of blepharophimosis |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Lateral tarsorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Enlargement of palpebral fissure (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Construction of median tarsorrhaphy with transposition of tarsal plate |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Congenital scleral show (finding) |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
5 |
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
5 |
Congenital blepharophimosis of upper eyelid |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Congenital blepharophimosis of lower eyelid |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
4 |
Congenital blepharophimosis of lower eyelid |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Blefarofimosesyndrom |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Congenital blepharophimosis of upper eyelid |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
Blefarofimosesyndrom |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
4 |
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
3 |
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
4 |
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
6 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
Finding site |
False |
Structure of palpebral fissure |
Inferred relationship |
Some |
6 |
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
4 |
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
2 |
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Reopening of blepharorrhaphy |
Procedure site - Direct (attribute) |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Blepharophimosis, intellectual disability syndrome (disorder) |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
Structure of right palpebral fissure (body structure) |
Is a |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
Structure of left palpebral fissure (body structure) |
Is a |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
|
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |
A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears. |
Finding site |
True |
Structure of palpebral fissure |
Inferred relationship |
Some |
1 |