Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital chorioretinal coloboma of right eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital chorioretinal coloboma of left eye (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Ethylmalonic encephalopathy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Endocrine-cerebro-osteodysplasia syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Endocrine-cerebro-osteodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Endocrine-cerebro-osteodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Endocrine-cerebro-osteodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Isodicentric chromosome 15 syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Faciocardiorenal syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Faciocardiorenal syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Faciocardiorenal syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Fallot complex with intellectual disability and growth delay syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
Fallot complex with intellectual disability and growth delay syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
familjära multipla fibrofollikulom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
familjära multipla fibrofollikulom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Micromelia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Kozlowski spondylometaphyseal dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Microlissencephaly micromelia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Microlissencephaly micromelia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Microlissencephaly micromelia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Pili torti onychodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Pili torti onychodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Pili torti onychodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Pili torti onychodysplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Ramos Arroyo syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Thiamine-responsive encephalopathy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Tangier disease (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Stern Lubinsky Durrie syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Stern Lubinsky Durrie syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Stern Lubinsky Durrie syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Saethre-Chotzen syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Solitary multilocular renal cyst |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Medullary sponge kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Medullary sponge kidney with nephrocalcinosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Medullary sponge kidney without nephrocalcinosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Fibrocystic kidney disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Simpson-Golabi-Behmel syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral medullary sponge kidney (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Midline cleft of lower lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Midline cleft of lower lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Embryopathy caused by mycophenolate mofetil (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Nasopalpebral lipoma coloboma syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Nasopalpebral lipoma coloboma syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Native American myopathy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Native American myopathy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
X-linked spastic paraplegia type 2 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Simpson-Golabi-Behmels syndrom, typ 2 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Postaxial polydactyly type A (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Postaxial polydactyly type B (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nephrogenic syndrome of inappropriate antidiuresis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Noonan syndrome-like disorder with loose anagen hair (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Noonan syndrome-like disorder with loose anagen hair (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Polydactyly of index finger (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Polyvalvular heart disease syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Polyvalvular heart disease syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Pigmented paravenous retinochoroidal atrophy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Pigmented paravenous retinochoroidal atrophy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pierre Robin sequence faciodigital anomaly syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |