Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Cortical dysplasia with focal epilepsy syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Aortic orifice right side by side with respect to pulmonary orifice (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Aortic orifice right side by side with respect to pulmonary orifice (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of centrum of thoracic vertebra |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Aniridia type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hydrocephalus associated with congenital aqueduct stenosis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hydrocephalus associated with congenital aqueduct stenosis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
3q27.3 microdeletion syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
3q27.3 microdeletion syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
3q27.3 microdeletion syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Diffuse retinal dysplasia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of spleen |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Mullerian duct and limb anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Mullerian duct and limb anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Microdysgenesis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oromandibular-limb hypogenesis spectrum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Oromandibular-limb hypogenesis spectrum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Oromandibular-limb hypogenesis spectrum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Kommerell's diverticulum |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Kommerell's diverticulum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital thickening of ilium |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hypoplasia of trabecular portion of left ventricle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
White forelock with malformations syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
White forelock with malformations syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
White forelock with malformations syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
White forelock with malformations syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
White forelock with malformations syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Hypertelorism with microtia and facial clefting syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hypertelorism with microtia and facial clefting syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Hypertelorism with microtia and facial clefting syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Hypertelorism with microtia and facial clefting syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Isolated hereditary congenital facial paralysis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Multiple malformation syndrome with facial defects as major feature |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
False hermaphrodite |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Atresia of aqueduct of Sylvius |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Brachydactyly elbow wrist dysplasia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Brachydactyly elbow wrist dysplasia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Brachydactyly elbow wrist dysplasia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Bilateral deficient infundibula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital absence of skull bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital fissure of sternum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pulmonary trunk absent with non-confluent pulmonary arteries |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Spondyloocular syndrome (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Glanular hypospadias |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Glanular hypospadias |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital abnormal shape of scapula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Acrocephalopolysyndactyly type III (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Acrocephalopolysyndactyly type III (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital absence of metacarpal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of carpal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Nodular embryo |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of gastrointestinal tract |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hereditary acantholytic dermatosis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
förvärvad abnormitet i atrioventrikulärklaff, inte morfologiskt mitral eller trikuspidal, associerad med atrioventrikulär septumdefekt |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
förvärvad abnormitet i atrioventrikulärklaff, inte morfologiskt mitral eller trikuspidal, associerad med atrioventrikulär septumdefekt |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Caudal regression syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Caudal regression syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hypoplasia of lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
partiellt bilateralt kluven gom med kluven läpp |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
partiellt bilateralt kluven gom med kluven läpp |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Cystic hygroma (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hemimegalencephaly |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Displacement of Wharton's duct |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Displacement of Wharton's duct |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital anomaly of endocrine testis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Left sided azygos continuation of inferior vena cava to left superior vena cava (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Haddad syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Haddad syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital malposition of aorta |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Ataxia-telangiectasia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
14q22q23 microdeletion syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Congenital atresia of vagina (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Transverse deficiency lower limb - metatarsal level |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Cleft cartilaginous centrum of cervical vertebra |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Dyschromatosis universalis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
missbildning av strupen |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Craniosynostosis syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital deformity of face (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hirschsprung disease of rectosigmoid region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hirschsprung disease of rectosigmoid region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Phakomatosis spilorosea |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Phakomatosis spilorosea |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Phakomatosis spilorosea |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Right ventricular outflow tract obstruction |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |