Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Postaxial polydactyly, dental, vertebral anomalies syndrome |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel |
Is a |
False |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Incomplete ossification of vertebra (disorder) |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Osteomesopycnosis |
Is a |
False |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Brachyrachia (short spine dysplasia) |
Is a |
False |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Jarcho-Levin syndrome |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital instability of spine |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital coronal cleft of vertebra (disorder) |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pygopagus |
Is a |
False |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital sagittal cleft of vertebra (disorder) |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple congenital defects of vertebral segmentation |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Melorheostosis of spine |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive Robinow syndrome |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital spondylolysis |
Is a |
True |
Congenital anomaly of spine |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|