| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Joubert syndrome 3
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JBTS3
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A Joubert syndrome that has_material_basis_in homo.. [+]A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.
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Joubert syndrome 4
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JBTS4
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A Joubert syndrome that has_material_basis_in dele.. [+]A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
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Joubert syndrome 5
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JBTS5
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A Joubert syndrome that has_material_basis_in muta.. [+]A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
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Joubert syndrome 6
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JBTS6
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A Joubert syndrome that has_material_basis_in homo.. [+]A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
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Joubert syndrome 7
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JBTS7
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A Joubert syndrome that has_material_basis_in muta.. [+]A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
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Joubert syndrome 8
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JBTS8
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A Joubert syndrome that has_material_basis_in muta.. [+]A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2
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Joubert syndrome 9
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JBTS9
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A Joubert syndrome that has_material_basis_in homo.. [+]A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
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Jackson-Weiss syndrome
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JWS; craniosynostosis-midfacial hypoplasia-foot ab..
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JWS; craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
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A syndrome characterized by craniosynostosis, midf.. [+]A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
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Jalili syndrome
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Cone rod dystrophy-amelogenesis imperfecta syndrom..
[+]Cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta
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A syndrome characterized by amelogenesis imperfect.. [+]A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.
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juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
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JP-HHT
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A syndrome characterized by hamartomatous polyps i.. [+]A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.
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Jacobsen Syndrome
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Jacobsen distal 11q deletion syndrome; chromosome ..
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Jacobsen distal 11q deletion syndrome; chromosome 11q deletion syndrome; partial 11q monosomy syndrome
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A chromosomal deletion syndrome that is characteri.. [+]A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
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arthropathy
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Joint ankylosis of the shoulder region; Joint anky..
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Joint ankylosis of the shoulder region; Joint ankylosis of the ankle and/or foot; Joint ankylosis of the pelvic region and thigh (disorder); Joint ankylosis of the upper arm (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the pelvic region and thigh; Joint ankylosis of the lower leg (disorder); Joint ankylosis of the lower leg; Joint ankylosis of the hand; Joint ankylosis of the forearm (disorder); Joint ankylosis of the forearm; Joint ankylosis of the ankle and/or foot (disorder); Joint ankylosis of the ankle and foot; ankylosis of forearm joint; ankylosis of hand joint; Ankylosis of joint of ankle and/or foot (disorder); Ankylosis of joint of forearm (disorder); Ankylosis of joint of hand (disorder); ankylosis of joint of multiple sites; Ankylosis of joint of multiple sites (disorder); ankylosis of joint of pelvic region and thigh; Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; ankylosis of upper arm joint; Ankylosis of joint of lower leg (disorder); Ankylosis of joint of shoulder region (disorder); ankylosis of ankle and foot joint; Ankylosis of joint of ankle and/or foot; Ankylosis of joint of forearm; Ankylosis of joint of hand; Ankylosis of joint of multiple sites; Ankylosis of joint of shoulder region; Ankylosis of multiple joints; Infectious arthropathy; Ankylosis of joint of lower leg; ankylosis of joint of shoulder region; Ankylosis of joint of upper arm
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A bone disease that is located_in the joint.
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biotinidase deficiency
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Juvenile-onset multiple carboxylase deficiency; BT..
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Juvenile-onset multiple carboxylase deficiency; BTD deficiency; deficiency of biotinidase (disorder); Late-onset multiple carboxylase deficiency; deficiency of biotinidase
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A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
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aggressive periodontitis
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juvenile periodontitis
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A periodontitis that is characterized by rapid att.. [+]A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
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breast fibroadenoma
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Juvenile fibroadenoma; juvenile fibroadenoma of br..
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Juvenile fibroadenoma; juvenile fibroadenoma of breast; Juvenile fibroadenoma (morphologic abnormality); Complex Fibroadenoma of breast; fibroadenoma; Fibroadenoma of breast (disorder); cellular Fibroadenoma; Fibroadenoma; Fibroadenoma of breast
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A breast benign neoplasm comprised of fibrous and .. [+]A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
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capillary hemangioma
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Juvenile hemangioma; Capillary hemangioma (disorde..
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Juvenile hemangioma; Capillary hemangioma (disorder); Capillary hemangioma (morphologic abnormality); cellular hemangioma of Infancy (Strawberry nevus); Congenital vascular hamartoma; Infantile hemangioma; Strawberry haemangioma; Strawberry nevus; Congenital vascular naevus; Strawberry nevus of skin (disorder); Capillary hemangioma; cellular hemangioma of Infancy; Strawberry nevus of skin; Capillary haemangioma
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A hemangioma that is characterized by the presence.. [+]A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
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childhood astrocytic tumor
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Juvenile astrocytoma; juvenile astrocytoma; Juveni..
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juvenile astrocytoma; Juvenile astrocytoma; Juvenile astrocytoma (morphologic abnormality); pediatric astrocytoma
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n_a
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hyper IgE recurrent infection syndrome 1
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Job syndrome; Job's syndrome; hyperimmunoglobulin ..
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Job's syndrome; Job syndrome; hyperimmunoglobulin E syndrome
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A hyper IgE syndrome that has_material_basis_in he.. [+]A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
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parosteal osteosarcoma
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juxtacortical osteosarcoma; Parosteal Osteogenic s..
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juxtacortical osteosarcoma; Parosteal Osteogenic sarcoma; Parosteal Osteosarcoma
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n_a
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Leigh disease
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juvenile subacute necrotizing encephalomyelopathy; ..
[+]
juvenile subacute necrotizing encephalomyelopathy; Leigh syndrome; Infantile necrotizing encephalomyelopathy; subacute necrotizing encephalomyelopathy
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A cytochrome-c oxidase deficiency disease characte.. [+]A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
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