Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Agenesis of metacarpal bone (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
6q16 microdeletion syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
6q16 microdeletion syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
6q16 microdeletion syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
Uterus bicornis bicollis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Uterus bicornis bicollis with blind hemi-vagina (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Uterus bicornis bicollis with blind hemi-vagina (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Uterus bicornis bicollis with patent cervix and vagina |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital vertical talus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital vertical talus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital vertical talus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Bilateral congenital vertical talus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Pili torti |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Pili torti-deafness syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bilateral complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Bilateral complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Bilateral complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Bilateral complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
Bilateral complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
Bilateral complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
8 |
Complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Complete phocomelia of lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Renal tubular dysgenesis due to twin to twin transfusion |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Penile megalourethra |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pfeiffer syndrome type 1 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pfeiffer syndrome type 1 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Pelizaeus-Merzbacher disease in female carrier |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pelizaeus-Merzbacher disease in female carrier |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Pulverulent cataract (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital macrostomia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Primary congenital hyperplasia of lung (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Polydactyly of bilateral index fingers (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Polydactyly of bilateral index fingers (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Renal tubular dysgenesis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sclerocornea of bilateral corneas (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sclerocornea of bilateral corneas (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Rothmund Thomson syndrome type 1 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Rothmund Thomson syndrome type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pfeiffer syndrome type 2 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pfeiffer syndrome type 2 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Secondary congenital hyperplasia of lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sabinas brittle hair syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sabinas brittle hair syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Pfeiffer syndrome type 3 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Pfeiffer syndrome type 3 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Rhizomelic chondrodysplasia punctata type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Rhizomelic chondrodysplasia punctata type 3 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 3 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Remnant of vitelline vein (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Remnant of vitelline artery |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Developmental dysplasia of left hip |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Developmental dysplasia of right hip |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital subluxation of left hip joint |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital subluxation of right hip joint |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Agenesis of right hemisphere of cerebellum (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Agenesis of left hemisphere of cerebellum (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral dysplastic hip |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Anomaly of umbilical vein group III (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Anomaly of umbilical vein group IV (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sternopagus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sternopagus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Stickler syndrome type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stickler syndrome type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Stickler syndrome type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Stickler syndrome type 1 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Subcortical nodular heterotopia (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stickler syndrome type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stickler syndrome type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Stickler syndrome type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Stickler syndrome type 2 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Helical ulceration of umbilical cord |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stickler syndrome type 4 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stickler syndrome type 4 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Stickler syndrome type 4 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Stickler syndrome type 4 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Bilateral secondary hypoplasia of lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral secondary hypoplasia of lung |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Single umbilical cord artery type II |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Single umbilical cord artery type I (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Segmental neurofibromatosis type 1 (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Segmental neurofibromatosis type 1 (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Syndactyly of fingers of bilateral hands |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Syndactyly of fingers of bilateral hands |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Longitudinal deficiency of bilateral fibulae |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Longitudinal deficiency of bilateral fibulae |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Anomaly of umbilical vein group I |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Waardenburg syndrome type 3 |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Waardenburg syndrome type 3 |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Anomaly of umbilical vein group II |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |