Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
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. |
false |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
Hereditary disorder of the visual system |
true |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
Digestive system hereditary disorder |
false |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
X-linked hereditary disease |
true |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
Cardiovascular system hereditary disorder |
false |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Tooth structure |
false |
Inferred relationship |
Some |
4 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
anomalie congénitale |
false |
Inferred relationship |
Some |
6 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Heart structure |
false |
Inferred relationship |
Some |
6 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
Narrowed structure (morphologic abnormality) |
false |
Inferred relationship |
Some |
5 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Structure of palpebral fissure (body structure) |
false |
Inferred relationship |
Some |
5 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
anomalie congénitale |
false |
Inferred relationship |
Some |
7 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Eyelid structure |
false |
Inferred relationship |
Some |
7 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Eyelid structure |
false |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
2 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Some |
2 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Heart structure |
false |
Inferred relationship |
Some |
2 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Heart structure |
false |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Eyelid structure |
true |
Inferred relationship |
Some |
2 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
3 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
Narrowed structure (morphologic abnormality) |
true |
Inferred relationship |
Some |
3 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Finding site |
Structure of palpebral fissure (body structure) |
true |
Inferred relationship |
Some |
3 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
Morphologically abnormal structure |
false |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Pathological process (attribute) |
Pathological developmental process |
false |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Associated morphology |
Deformity |
true |
Inferred relationship |
Some |
2 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
Blepharophimosis, intellectual disability syndrome (disorder) |
true |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Interprets |
Intellectual ability |
true |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Has interpretation |
Impaired |
true |
Inferred relationship |
Some |
1 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Interprets |
Adaptation behavior (observable entity) |
true |
Inferred relationship |
Some |
4 |
|
Ohdo syndrome, Maat-Kievit-Brunner type |
Has interpretation |
Impaired |
true |
Inferred relationship |
Some |
4 |
|