Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Metatarsus adductus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital absence of thymus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of neck |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Incomplete cleft hard and soft palate |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete cleft hard and soft palate |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Left atrial appendage - right - juxtaposition |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital dislocation of hip |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bilateral congenital dislocation of hip |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lumbosacral agenesis (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lumbosacral agenesis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Lumbosacral agenesis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Encephalocele of vertex (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Encephalocele of vertex (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Pygodidymus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Pygodidymus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of mandible |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital macrognathism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of fibula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Anomalous origin of right coronary artery from left coronary artery aortic sinus (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Anomalous origin of right coronary artery from left coronary artery aortic sinus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Single ventricular outlet above left ventricle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Cervical spina bifida with hydrocephalus - closed |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Cervical spina bifida with hydrocephalus - closed |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Cervical spina bifida with hydrocephalus - closed |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Multiple ventricular septal defects |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal fusion of metacarpal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital esophagobronchial fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital esophagobronchial fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Situs inversus thoracis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Situs inversus thoracis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Situs inversus thoracis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital lordosis/scoliosis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Absent right superior vena cava |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Confluent aortopulmonary window with minimal superior and inferior rim (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Anomalous termination of right pulmonary vein |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital alveolar hyperplasia of maxilla |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Ectromelia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Ectromelia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Nodular heterotopia |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Nodular heterotopia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital prelingual deafness |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Persistent human tail |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Aplasia cutis in Johanson-Blizzard syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Aortic orifice anterior left with respect to pulmonary orifice (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Aortic orifice anterior left with respect to pulmonary orifice (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Specified optic disc anomalies |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hypoplasia of part of upper limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Circumflex runs posterior to aorta |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Tetralogy of Fallot |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Tetralogy of Fallot |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Tetralogy of Fallot |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Tetralogy of Fallot |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Sutural alopecia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Radial polydactyly Wassel 5 |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Familial hypodontia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Familial hypodontia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Interrupted aortic arch distal to left subclavian artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Overriding ventriculoarterial valve |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of caudal vertebra |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Aortopulmonary window with tubular connection (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital enlargement of nasopharynx |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Punctate oculocutaneous albinoidism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Double urethra |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Microdontia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal fusion of humerus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hydroureter |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital hydroureter |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Incisor that has marked lateral borders occurring lingually. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital vesicoureterorenal reflux, bilateral |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital vesicoureterorenal reflux, bilateral |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital trigger thumb of right hand |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital failure of fusion between maxillary and mandibular processes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Branchial cleft sinus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital polar cataract |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Agenesis of nasal cartilages |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital malformation of sternum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital anomaly of cardiovascular structure of trunk |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Ichthyosis hystrix |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Trilobular liver |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Trilobular liver |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Rachipagus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Rachipagus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Vascular ring with right aortic arch and left arterial duct from anomalous retroesophageal brachiocephalic artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Vascular ring with right aortic arch and left arterial duct from anomalous retroesophageal brachiocephalic artery |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital gingival granular cell tumor |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Benign neoplasm of ectopic male breast tissue |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Benign neoplasm of ectopic male breast tissue |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |