| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital vascular anomaly of lower eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Chronic granulomatous disease (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Temporal encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Lumbar meningomyelocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Lumbar meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Lumbar meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Parietal encephalocele (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital cerebral meningocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital cerebral meningocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Spina bifida of lumbar region |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital protrusion of tongue |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Myelomeningocele that occurs in the region L4 to L5. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cervical myelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cervical myelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital cerebral hernia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Kranielt hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Thoracic myelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Dens evaginatus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Myelomeningocele that occurs in the region L1 to L3. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Lumbar myelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Lumbar myelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Lumbar spina bifida without hydrocephalus - closed |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Thoracic meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Thoracic meningomyelocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Thoracic meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Congenital abnormal long growth of bile duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cervical meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Cervical meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Cervical meningomyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Bilateral medullary sponge kidney (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital onychauxis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic movement disorder with characteristics of involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic dermis disorder with characteristics of bilateral fairly symmetrical antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (such as absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers. Clinically manifests with moderate to severe elbow extension and supination limitation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare life-threatening congenital non-syndromic conotruncal heart malformation with characteristics of absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus) associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (for example diaphragmatic hernia or cleft lip/palate) may be present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare life-threatening congenital non-syndromic conotruncal heart malformation with characteristics of absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus) associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (for example diaphragmatic hernia or cleft lip/palate) may be present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Developmental dislocation of ankle and/or foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Developmental dislocation of ankle and/or foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| udviklingsrelateret luksation af led i skulderområde |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| udviklingsrelateret luksation af led i skulderområde |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital single renal cyst (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ectopic artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Posterior fossa arachnoid cyst (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital cystic disease of liver |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital vesicoureterorenal reflux, bilateral |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable predominantly midline cerebellar hypoplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Hypertrophic Meckel's diverticulum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Pachyonychia congenita syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Branchial cleft sinus and fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Fistula of branchial cleft |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Fordyce's disease |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Fordyce spots of lips (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral multicystic renal dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital anomaly of right optic disc |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anomaly of bilateral optic discs (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anomaly of bilateral optic discs (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital anomaly of left optic disc (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Fistula colli congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare potentially life-threatening vascular malformation with characteristics of a direct communication between an artery and a vein, without the interposition of the capillary bed, occurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Microphthalmos of right eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
FHIR