Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Pulmonary emphysema in alpha-1 PI deficiency |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Toxic emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Scar emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Segmental bullous emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Other specified perinatal interstitial emphysema or related condition |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Chronic obstructive pulmonary disease |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acute infective exacerbation of chronic obstructive pulmonary disease |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Pulmonary emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Chronic bullous emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hemolytic anemia with emphysema AND cutis laxa |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Chronic diffuse emphysema caused by inhalation of chemical fumes AND/OR vapors |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Senile blepharophimosis |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Chronic obstructive airways disease NOS |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cicatricial blepharophimosis |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acute exacerbation of chronic obstructive pulmonary disease |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Spastic blepharophimosis |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Other specified chronic obstructive airways disease |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Vanishing lung |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Chronic obstructive pulmonary disease with acute lower respiratory infection |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
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 |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Acquired blepharophimosis |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Blepharophimosis syndrome |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
[X]Other specified chronic obstructive pulmonary disease |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Unilateral emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Narrow gingival width |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Repair of blepharophimosis |
Direct morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Obstructive emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Compensatory emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Chronic obstructive pulmonary disease with acute exacerbation, unspecified |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital lobar emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Bronchial atresia with segmental pulmonary emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Cystic-bullous disease of the lung |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Severe chronic obstructive pulmonary disease |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Giant bullous emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Panacinar emphysema |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Interstitial emphysema of lung |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Narrowing of intervertebral disc space |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Perinatal interstitial emphysema or related condition NOS |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Anatomical narrow angle glaucoma with borderline intraocular pressure (disorder) |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Anatomical narrow angle glaucoma with borderline intraocular pressure (disorder) |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Narrowing or closure of fetal ductus arteriosus |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Narrowing of fetal arterial duct |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Chronic obstructive airway disease with asthma |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Acute exacerbation of chronic obstructive pulmonary disease with asthma |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
5 |
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
5 |
Congenital blepharophimosis of upper eyelid |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Congenital blepharophimosis of lower eyelid |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Congenital blepharophimosis of lower eyelid |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
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. |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Blepharophimosis syndrome |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
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 |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Congenital blepharophimosis of upper eyelid |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Blepharophimosis syndrome |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
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). |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
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. |
Associated morphology |
False |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
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. |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
4 |
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. |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Small left colon syndrome |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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. |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Coarctation |
Is a |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
|
Blepharophimosis, intellectual disability syndrome (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Narrowing of fetal arterial duct |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acquired blepharophimosis of bilateral eyelids (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acquired blepharophimosis of bilateral eyelids (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Congenital blepharophimosis of bilateral eyelids (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital blepharophimosis of bilateral eyelids (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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. |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
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). |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acquired blepharophimosis of left palpebral fissure (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acquired blepharophimosis of right palpebral fissure (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital blepharophimosis of left palpebral fissure (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital blepharophimosis of right palpebral fissure (disorder) |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Narrowed structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |