Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Ectopic pancreas |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Macrocephaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of eye |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
8p partial monosomy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Occipital dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Symptomatic late congenital syphilis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Axenfeld's anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypertaurodontism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital deficiency of pigment of skin |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
22q partial monosomy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Preauricular dimple |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Triglyceride storage disease with ichthyosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Longitudinal absence of radius AND ulna |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cutis laxa, acquired type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cebocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Nodular calcific aortic valve stenosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sturge-Weber syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Porokeratosis of Mibelli, plaque type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Accessory carpal bones |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Secondary orotic aciduria |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetal genitourinary abnormality |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
14q partial distal trisomy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital entropion |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Calcaneonavicular bar |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Torsion of accessory fallopian tube |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Dominant congenital ichthyosiform erythroderma |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pott's curvature |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital atresia of left external ear |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Fundus coloboma |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Coloboma of choroid |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital chorioretinal coloboma of right eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital chorioretinal coloboma of left eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral congenital chorioretinal coloboma of eyes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral congenital chorioretinal coloboma of eyes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Malformation of central nervous system of fetus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Unilateral complete cleft palate |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Adult hypophosphatasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Ehlers-Danlos syndrome, type 2 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Neurocutaneous melanosis sequence |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Exstrophy of cloaca sequence |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital cubitus varus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital liver grooves |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital postural scoliosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of finger |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Progressive infantile idiopathic scoliosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anisomelia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cockayne syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Complete trisomy 13 syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital stenosis of aorta |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Lingual thyroid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ambiguous genitalia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Double uterus affecting pregnancy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Colloid cyst of third ventricle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
X chromosome-linked pyridoxine refractory sideroblastic anaemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
PIK3CA related overgrowth syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hereditary spastic paraplegia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Hereditary sensory-motor neuropathy, type V |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Pure hereditary spastic paraplegia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Complicated hereditary spastic paraplegia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Infantile ascending hereditary spastic paralysis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia type 15 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 11 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia type 7 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Fryns macrocephaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 39 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia type 2 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 36 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 4 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 44 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 46 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 53 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 54 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 55 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 57 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia, optic atrophy, neuropathy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 32 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 26 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 23 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 64 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 63 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 61 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia with Paget disease of bone syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 18 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 25 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 10 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 6 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia with precocious puberty syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 29 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia, nephritis, deafness syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital conductive hearing loss |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Complete trisomy 14 syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Chronic granulomatous disease, type IV |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Beta-aminoisobutyric aciduria |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cephalothoracopagus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital hallux valgus of left great toe |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hallux valgus of right great toe |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral congenital trigger thumb of hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Bilateral congenital trigger thumb of hand |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital trigger finger of right hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |