Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Coffin-Siris syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
syndrome de De Barsy |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Chronic infantile neurological, cutaneous and articular syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Chédiak-Higashi syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Cogan's syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Cerebro-oculo-facio-skeletal syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Cerebro-costo-mandibular syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Chronic fatigue syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Dyskeratosis congenita |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
syndrome de Di George |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Distichiasis-lymphedema syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|
Costello syndrome |
Is a |
False |
Multisystem disorder C-D |
Inferred relationship |
Some |
|