Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital conductive hearing loss |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital hallux valgus of left great toe (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hallux valgus of right great toe (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital trigger thumb of bilateral hands |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital trigger thumb of bilateral hands |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital trigger finger of right hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital trigger finger of left hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral multicystic renal dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral multicystic renal dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Congenital hypoplasia of odontoid process of axis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypoplasia of sacrum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of forearm and hand |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Congenital absence of forearm and hand |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Congenital absence of forearm and hand |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Autosomal dominant hereditary spastic paraplegia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Longitudinal deficiency of upper and lower limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Longitudinal deficiency of upper and lower limbs |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital mixed conductive and sensorineural hearing loss |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Lop ear deformity |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hyperplasia of lung |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital stenosis of large intestine (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of atrioventricular septum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Aplasia of patella |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital thrombocytopenia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pericarditis secondary to Mulibrey nanism (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Congenital absence of right mandibular condyle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of left mandibular condyle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pseudovaginal perineoscrotal hypospadias |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Retinitis pigmentosa-deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Retinitis pigmentosa-deafness-ataxia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Goldenhar syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Gorlin-Chaudhry-Moss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Oculo-palato-digital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Oculo-palato-digital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Usher syndrome type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Usher syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Oculodento-osseous dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Oculodento-osseous dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Floating-Harbor syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Kabuki make-up syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Renal coloboma syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Renal coloboma syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Solitary median maxillary central incisor syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Solitary median maxillary central incisor syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Francois syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolated follicle stimulating hormone deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital cyst of orbit (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Multiple non-ossifying fibromatosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital cardiovascular disorder (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital bronchogenic cyst |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of zonula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard palate with left cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft hard palate with left cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cleft hard palate with right cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft hard palate with right cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cleft soft palate with left cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft soft palate with left cleft lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cleft soft palate with right cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft soft palate with right cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cleft hard and soft palate with left cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Cleft hard and soft palate with left cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Cleft hard and soft palate with left cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Cleft hard and soft palate with right cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Cleft hard and soft palate with right cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Cleft hard and soft palate with right cleft lip (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Cleft palate with left cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft palate with left cleft lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Cleft palate with right cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft palate with right cleft lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
10 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
11 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
12 |
Haemodynamically insignificant ventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of great vessel |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Common arterial trunk with aortic dominance (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Common arterial trunk with aortic dominance (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Congenital dysplasia of tricuspid valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Congenital obstructive hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Microphthalmic socket (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |