Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Steroid sensitive nephrotic syndrome of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Impairment of child development |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid resistant nephrotic syndrome of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Interstitial lung disease of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile hemangioendothelioma |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Overconsumption of milk in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early childhood |
Is a |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Childhood neoplasm of heart |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Irritable bowel syndrome variant of childhood with diarrhea |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Entire life |
Is a |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Irritable bowel syndrome variant of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Irritable bowel syndrome variant of childhood with constipation |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary geniospasm (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Childhood cellulitis of perianal region caused by beta-hemolytic Streptococcus group A (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile primary lateral sclerosis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gastroesophageal reflux in child (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature. |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pediatric onset systemic sclerosis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gender dysphoria in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe paediatric obstructive sleep apnoea |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic Blau syndrome |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger with normal prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oppositional defiant disorder without chronic irritability-anger |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oppositional defiant disorder without chronic irritability-anger with limited prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oppositional defiant disorder without chronic irritability-anger with normal prosocial emotions |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
dermatite herpétiforme juvénile |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Early-onset Lafora body disease (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anogenital streptococcal cellulitis of infancy and childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epilepsy of infancy with migrating focal seizures |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood seizure |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Problème relationnel de l'enfant |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric follicular lymphoma |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute polyarticular juvenile idiopathic arthritis |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile osteochondrosis of right tarsal navicular (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile osteochondrosis of left tarsal navicular |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile osteochondrosis of right second metatarsal (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of left second metatarsal |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polyarticular juvenile idiopathic arthritis |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile polymyositis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood onset conduct-dissocial disorder |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Underweight in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nutritional wasting in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute malnutrition in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nutritional stunting in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric onset Sjögren syndrome |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute necrotizing encephalopathy of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gender identity disorder of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute encephalopathy with biphasic seizures and late reduced diffusion |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Recurrent benign focal seizures of childhood |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gastroesophageal reflux in child (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired megacolon in child (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired megacolon in child (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired epileptic aphasia (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mucinous cystadenoma of ovary in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of 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 |
Existential restriction modifier (core metadata concept) |
1 |
Childhood double incontinence (finding) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Self-limited epilepsy with autonomic seizures |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood occipital visual epilepsy (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coxa plana |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Laing early-onset distal myopathy |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
KLHL9-related early-onset distal myopathy |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperzincemia and hypercalprotectinemia (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Benign nocturnal alternating hemiplegia of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive lower motor neuron disease with childhood onset |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive lower motor neuron disease with childhood onset |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile tabes dorsalis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Optic nerve edema, splenomegaly syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal systemic lupus erythematosus (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset spasticity with hyperglycinemia (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood-onset spasticity with hyperglycinemia (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile osteochondrosis of left tarsus (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Juvenile osteochondrosis of bilateral tarsals (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Juvenile osteochondrosis of right tarsus (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Juvenile arthritis of inflammatory bowel disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile plantar dermatosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |