| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Multiple congenital cardiac defects |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital sensorineural hearing loss (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete cleft palate (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cystic testicular dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Aortic orifice left side by side with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Reunion Island Larsen-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Reunion Island Larsen-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Reunion Island Larsen-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Inferior vena cava connecting to morphological left atrium |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Retroesophageal pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Aortic orifice anterior left with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Stomach in central position (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Aortic orifice posterior with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Developmental displacement of brachial plexus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Aortic orifice anterior right with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhoea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Aortic orifice right side by side with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Intrahepatic gallbladder |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Aortic orifice posterior left with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Aortic orifice anterior with respect to pulmonary orifice (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Right-sided pulmonary arterial trunk |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Juxtaposed atrial appendage |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Malalignment of aortic sinus in relation to pulmonary sinus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Fetal spina bifida (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Fetal spina bifida (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Fetal hydrocephalus (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital supravalvular mitral stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare congenital non-syndromic heart malformation with characteristics of more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Parachute malformation of tricuspid valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital absence of auricle with stenosis of auditory canal |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital absence of auricle with stenosis of auditory canal |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Tracheo-esophageal fistula without atresia of esophagus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Tracheo-esophageal fistula without atresia of esophagus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Platyspondylia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital aneurysm of precerebral artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare form of hereditary spastic paraplegia with characteristics of delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Caused by homozygous or compound heterozygous mutation in the CYP2U1 gene on chromosome 4q25. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital stenosis of pulmonary artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital aneurysm of cerebral artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital bronchial stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital thoracostenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital supraglottic stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral multicystic renal dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| 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 |
2 |
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital vascular anomaly of upper eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital vascular anomaly of lower eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
FHIR