Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital elongation of innominate artery |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital shortening of tendon |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital contracture of gastrocnemius muscle (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital tortuosity of branch of aortic arch (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital short growth of innominate artery |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital short costocoracoid ligament (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Blepharophimosis epicanthus inversus ptosis syndrome |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deformity of mitral valve annulus (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital ectropion of lip |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital skin contracture |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pili torti (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital combined bony and soft tissue deformity of orbit (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital pterygium of nail (disorder) |
Is a |
True |
Congenital deformity of soft tissue (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|