Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Functional encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Secondary organic encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Primary organic encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Encopresis with constipation AND overflow incontinence |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acute infection caused by Paracoccidioides brasiliensis in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile psoriatic arthritis with psoriasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile psoriatic arthritis with psoriasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile chronic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Persistent onset antinuclear antibody positive juvenile idiopathic oligoarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Extended oligoarticular onset antinuclear antibody negative juvenile idiopathic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Persistent onset antinuclear antibody negative juvenile idiopathic oligoarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Extended oligoarticular onset antinuclear antibody positive juvenile idiopathic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare inflammatory rheumatic disease characterised by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset persistent oligoarthritis there is never involvement of more than four joints during the whole course of the disease. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset extended oligoarthritis there is involvement of additional joints after the first six months of the disease, resulting in more than four joints being ultimately affected. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis, undifferentiated arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Polyarticular juvenile idiopathic arthritis |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
4 |
Juvenile seronegative polyarthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acute polyarticular juvenile idiopathic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile seropositive polyarthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Rheumatoid factor negative and anti-citrullinated protein antibody positive juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Rheumatoid factor negative and anti-citrullinated protein antibody negative juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Rheumatoid factor positive and anti-citrullinated protein antibody positive juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Rheumatoid factor positive and anti-citrullinated protein antibody negative juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile psoriatic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile arthritis in ulcerative colitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile arthritis in Crohn's disease (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Juvenile spondyloarthropathy (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile reactive arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Late onset polyarticular juvenile chronic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
LIMS2-related limb girdle muscular dystrophy |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Type 2A juvenile hereditary hemochromatosis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Type 2B juvenile hereditary hemochromatosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Functional abdominal pain of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Functional vomiting in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Functional disorder of gastrointestinal tract in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Functional aerophagy in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases). |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A benign epithelial ovarian tumour characterised by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Urticaria multiforme |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Physiological development failure |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Child developmental finding |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Delay in physiological development (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood chronic lichenified atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood chronic lichenified atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood pruriginous atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood pruriginous atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood impetiginised atopic dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood nummular atopic eczematous dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood generalised erythematous atopic dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood generalised erythematous atopic dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood flexural atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile pityriasis rubra pilaris (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Classical juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Circumscribed juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Atypical juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Macular oedema due to juvenile central retinal vein occlusion |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Neovascularization of eye due to juvenile central retinal vein occlusion |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Child at increased risk for overweight body mass index greater than 85 percentile (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Alexander disease juvenile form |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Alexander disease juvenile form |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Alexander disease juvenile form |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
4 |
Primary infantile fibrosarcoma |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
4 |
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm count or azoospermia have also been reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Pediatric locking of interphalangeal joint of right thumb (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric trigger thumb of left hand |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |