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 |
Some |
1 |
Childhood duodenal ulcer |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood bronchiectasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Papillary intralymphatic angioendothelioma of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Frictional lichenoid eruption (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Juvenile arthritis in Crohn's disease (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile arthritis in ulcerative colitis |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Juvenile osteochondrosis of acetabulum |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Chronic bullous dermatosis of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Chronic bullous dermatosis of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Lichen sclerosus of penis, childhood form (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile hemangioendothelioma |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Pediatric onset Sjögren syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
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 |
Some |
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 |
Some |
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 |
Some |
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 |
Some |
1 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Seromucinous cystadenoma of ovary in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Friction dermatitis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood type dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood type dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease 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. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease 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. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease 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. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Gianotti-Crosti syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acquired acrodermatitis enteropathica |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Hereditary acrodermatitis enteropathica |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood-onset autosomal dominant optic atrophy |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Unsocialized aggressive reaction of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Severe childhood autosomal recessive muscular dystrophy |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
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 |
Some |
2 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile epiphysitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile pustular psoriasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile pustular psoriasis |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Bullous eruption of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood bullous pemphigoid (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile myxedema |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acute haemorrhagic oedema of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Acute haemorrhagic oedema of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Infantile fibrosarcoma |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile ankylosing spondylitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pelvis juvenile osteochondropathy |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric vaccine product containing only whole cell Bordetella pertussis and Clostridium tetani toxoid and Corynebacterium diphtheriae toxoid (medicinal product) |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Acellular Bordetella pertussis and Clostridium tetani and Corynebacterium diphtheriae and Haemophilus influenzae type b and Human poliovirus antigens only paediatric vaccine product |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Hepatitis A virus antigen only paediatric vaccine product |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Whole cell Bordetella pertussis and Corynebacterium diphtheriae toxoid and Clostridium tetani toxoid and Haemophilus influenzae type b capsular polysaccharide conjugated antigens only pediatric vaccine |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Acellular Bordetella pertussis and Corynebacterium diphtheriae toxoid and Clostridium tetani toxoid and Haemophilus influenzae type b capsular polysaccharide conjugated antigens only pediatric vaccine |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Acellular Bordetella pertussis, Clostridium tetani and Corynebacterium diphtheriae toxoids, Haemophilus influenzae type b capsular polysaccharide conjugated, Hepatitis B virus surface antigens only pediatric vaccine |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Pediatric vaccine product containing only acellular Bordetella pertussis and Clostridium tetani and Corynebacterium diphtheriae and Human poliovirus antigens (medicinal product) |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Pediatric vaccine product containing only acellular Bordetella pertussis and Clostridium tetani toxoid and Corynebacterium diphtheriae toxoid and inactivated whole Human Poliovirus serotype 1, 2 and 3 antigens (medicinal product) |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
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) |
This attribute represents a characteristic that is applicable to a product. |
False |
Childhood |
Inferred relationship |
Some |
|
Juvenile Graves' disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile Graves' disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Secondary childhood glaucoma following congenital cataract surgery |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Multisystem inflammatory syndrome in children |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood lichen sclerosus (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Vulval lichen sclerosus, childhood form (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Non-accidental injury to child |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Non-accidental traumatic head injury to child (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood granulomatous periorificial dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Dermatosis in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Indian childhood cirrhosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Indian childhood cirrhosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Idiopathic atrophy of nail in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Biliary cirrhosis of children |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Hypomyopathic juvenile dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Hypomyopathic juvenile dermatomyositis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile polymyositis due to paraneoplastic syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile dermatomyositis overlap syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile dermatomyositis overlap syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Diffuse systemic sclerosis of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Idiopathic megacolon in child |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Idiopathic megacolon in child |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Normal childhood development (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Child behavior alteration (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Paediatric nodal marginal zone B cell lymphoma |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood double incontinence (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood double incontinence (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Secondary functional encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Encopresis without constipation AND without overflow incontinence |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Primary functional encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Non-organic continuous encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Non-organic discontinuous encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |