Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. |
Associated morphology |
False |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
3 |
Aggregated spermatozoa (morphologic abnormality) |
Is a |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
|
Myeloid leukemia associated with Down syndrome (disorder) |
Associated morphology |
False |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
5 |
Clue cell (morphologic abnormality) |
Is a |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
|
Oval fat body (morphologic abnormality) |
Is a |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
|
Agglutinated spermatozoa (morphologic abnormality) |
Is a |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
|
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males. |
Associated morphology |
False |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
1 |
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. |
Associated morphology |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
1 |
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. |
Associated morphology |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
1 |
Columnar cell lesion |
Is a |
True |
Cellular AND/OR subcellular abnormality |
Inferred relationship |
Some |
|