Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Amaurosis hypertrichosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Amaurosis hypertrichosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Angel-shaped phalangoepiphyseal dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Brain calcification Rajab type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Holt-Oram syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Choroideremia with deafness and obesity syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Chudley-Lowry-Hoars syndrom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
11 |
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ehlers-Danlos syndrome progeroid type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Ehlers-Danlos syndrome progeroid type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Fine Lubinsky syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Fine Lubinsky syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Hair defect with photosensitivity and intellectual disability syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hall Riggs syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Hall Riggs syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Hall Riggs syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Heart defect and limb shortening syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Heart defect and limb shortening syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Heart defect and limb shortening syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Heart-hand syndrome type 2 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Heart-hand syndrome type 2 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Heart-hand syndrome type 3 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Heart-hand syndrome type 3 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Heart-hand syndrome type 3 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Heart-hand syndrome Slovenian type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Heart-hand syndrome Slovenian type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Heart-hand syndrome Slovenian type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Postaxial polydactyly and intellectual disability syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Postaxial polydactyly and intellectual disability syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Short fifth metacarpal insulin resistance syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Short stature with webbed neck and congenital heart disease syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Short stature with webbed neck and congenital heart disease syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Short stature with webbed neck and congenital heart disease syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Short tarsus with absence of lower eyelashes syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Short tarsus with absence of lower eyelashes syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Dacryocystitis and osteopoikilosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Dacryocystitis and osteopoikilosis syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Lymphedema hypoparathyroidism syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Lymphedema hypoparathyroidism syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Deaf blind hypopigmentation syndrome Yemenite type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Deaf blind hypopigmentation syndrome Yemenite type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Dermo-odonto dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Dermo-odonto dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Developmental malformation, deafness, dystonia syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Diaphanospondylodysostosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Hydrolethalus syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital dilatation of aortic root (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
medfött triggerfinger och medfödd triggertumme |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Congenital malformation of tongue, mouth and pharynx |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of pelvis and lower limb |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Aplasia of fibula and ectrodactyly syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Aplasia of fibula and ectrodactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Aplasia of fibula and ectrodactyly syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Dermatoosteolysis Kirghizian type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Dermatoosteolysis Kirghizian type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Dermatoosteolysis Kirghizian type (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Siegler Brewer Carey syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital ectropion |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Cleft palate with cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cheilognathoschisis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cheilognathoprosoposchisis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Oromandibular-limb hypogenesis spectrum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
partiellt bilateralt kluven gom med kluven läpp |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |