Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hypertelorism with microtia and facial clefting syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Karsch Neugebauer syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Karsch Neugebauer syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Okamoto syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
syndrom med aurikulookulär anomali och läppspalt |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Bamforth Lazarus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft hard and soft palate with cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft of hard palate and cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft palate and bilateral cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft of soft palate and cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cheilognathoprosoposchisis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Cleft mandible |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Lowry Yong syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Splenogonadal fusion |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Lethal omphalocele with cleft palate syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Weaver Williams syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Weaver Williams syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Epileptic encephalopathy with global cerebral demyelination (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Digestive duplication cyst of tongue (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
3q13 microdeletion syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
3q13 microdeletion syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
4p16.3 microduplication syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
7q11.23 microduplication syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Familial isolated congenital asplenia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Hemifacial microsomia with radial defect syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hemifacial microsomia with radial defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Ring chromosome 13 syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
X-linked intellectual disability Nascimento type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Chromosome Xp22.3 microdeletion syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Chromosome Xp22.3 microdeletion syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Short stature locking fingers syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive amelia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive amelia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Cleft of soft palate and cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Pure mitochondrial myopathy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft lip retinopathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cleft lip retinopathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Cleft lip retinopathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Coxoauricular syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Coxoauricular syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Bone dysplasia lethal Holmgren type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Craniosynostosis fibular aplasia syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Craniosynostosis fibular aplasia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Carbohydrate deficient glycoprotein syndrome type 2k (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft palate and bilateral cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft of hard palate (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Distal monosomy 17q (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Distal monosomy 17q (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cyprus facial neuromusculoskeletal syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Cyprus facial neuromusculoskeletal syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Cyprus facial neuromusculoskeletal syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Marfanoid syndrome De Silva type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Melhem Fahl syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft of hard palate and cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
11 |
Aplasia of trochlea of humerus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 18 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 25 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital J shaped sella turcica (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Occipitalization of atlas (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital wide symphysis pubis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital wide symphysis pubis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital club finger (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital club finger (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
splenomegali samtidig med och orsakad av inlagringssjukdom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |