Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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 |
Childhood duodenal ulcer |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood bronchiectasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Papillary intralymphatic angioendothelioma of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Frictional lichenoid eruption (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile arthritis in Crohn's disease |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile arthritis in ulcerative colitis |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of acetabulum |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic bullous dermatosis of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chronic bullous dermatosis of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lichen sclerosus of penis, childhood form (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile hemangioendothelioma |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
North American Indian childhood cirrhosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
North American Indian childhood cirrhosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pediatric onset Sjögren syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
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) |
3 |
Seromucinous cystadenoma of ovary in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Friction dermatitis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood type dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood type dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sporadic Blau syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic Blau syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sporadic Blau syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Gianotti-Crosti syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Non-hereditary acrodermatitis enteropathica (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary acrodermatitis enteropathica |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood-onset autosomal dominant optic atrophy (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Unsocialized aggressive reaction of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe childhood autosomal recessive muscular dystrophy |
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) |
2 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile epiphysitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile pustular psoriasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile pustular psoriasis |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bullous eruption of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood bullous pemphigoid (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile myxedema |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute hemorrhagic edema of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute hemorrhagic edema of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Malignant infantile fibrosarcoma (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile ankylosing spondylitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pelvis juvenile osteochondropathy (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric vaccine product containing only whole cell Bordetella pertussis and Clostridium tetani toxoid and Corynebacterium diphtheriae toxoid (medicinal product) |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acellular Bordetella pertussis and Clostridium tetani and Corynebacterium diphtheriae and Haemophilus influenzae type b and Human poliovirus antigens only paediatric vaccine product |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hepatitis A virus antigen only paediatric vaccine product |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Whole cell Bordetella pertussis and Corynebacterium diphtheriae toxoid and Clostridium tetani toxoid and Haemophilus influenzae type b capsular polysaccharide conjugated antigens only pediatric vaccine |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acellular Bordetella pertussis and Corynebacterium diphtheriae toxoid and Clostridium tetani toxoid and Haemophilus influenzae type b capsular polysaccharide conjugated antigens only pediatric vaccine |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acellular Bordetella pertussis, Clostridium tetani and Corynebacterium diphtheriae toxoids, Haemophilus influenzae type b capsular polysaccharide conjugated, Hepatitis B virus surface antigens only pediatric vaccine |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acellular Bordetella pertussis and Clostridium tetani and Corynebacterium diphtheriae and Human poliovirus antigens only pediatric vaccine product |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acellular Bordetella pertussis and Clostridium tetani toxoid and Corynebacterium diphtheriae toxoid and inactivated whole Human Poliovirus serotype 1, 2 and 3 antigens only paediatric vaccine product |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pediatric vaccine product containing only acellular Bordetella pertussis and Clostridium tetani and Corynebacterium diphtheriae and Haemophilus influenzae type b and Hepatitis B virus and Human poliovirus antigens (medicinal product) |
Has product characteristic |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile Graves' disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile Graves' disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Secondary childhood glaucoma following congenital cataract surgery (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multisystem inflammatory syndrome in children |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood lichen sclerosus (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vulval lichen sclerosus, childhood form (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Non-accidental injury to child (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Non-accidental traumatic head injury to child |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood granulomatous periorificial dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dermatosis in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Indian childhood cirrhosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Indian childhood cirrhosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Idiopathic atrophy of nail in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hypomyopathic juvenile dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypomyopathic juvenile dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile polymyositis due to paraneoplastic syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile dermatomyositis overlap syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile dermatomyositis overlap syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Diffuse systemic sclerosis of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic megacolon in child |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic megacolon in child |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Normal childhood development (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child behavior alteration (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Paediatric nodal marginal zone B cell lymphoma |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood double incontinence (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood double incontinence (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Secondary functional encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encopresis without constipation AND without overflow incontinence |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary functional encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Non-organic continuous encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Non-organic discontinuous encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |