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Disease	Synonyms	Description
jaw-winking syndrome	Jaw-blinking; Marcus-Gunn syndrome; Pterygoid-levator synkin.. [+] Jaw-blinking; Marcus-Gunn syndrome; Pterygoid-levator synkinesis; abnormal innervation syndrome of eyelid [-]	n_a
juvenile rheumatoid arthritis	juvenile idiopathic arthritis; juvenile chronic polyarthriti.. [+] juvenile idiopathic arthritis; juvenile chronic polyarthritis; acute juvenile rheumatoid arthritis; monarticular juvenile rheumatoid arthritis; pauciarticular juvenile arthritis; systemic juvenile rheumatoid arthritis; Pauciarticular onset juvenile chronic arthritis; Still's disease [-]	A rheumatoid arthritis that involves an autoimmune disease o..[+] A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. [-]
juvenile glaucoma	Glaucoma of childhood	n_a
jaw cancer	jaw neoplasm; neoplasm of jaw	A bone cancer and jaw disease that is located in the jaw and..[+] A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. [-]
juxtacortical chondroma	Juxtacortical chondroma; Juxtacortical chondroma (morphologi.. [+] Juxtacortical chondroma; Juxtacortical chondroma (morphologic abnormality); Periosteal Chondroma [-]	n_a
Jervell-Lange Nielsen syndrome	Jervell and Lange-Nielson syndrome; Jervell and Lange-Nielso.. [+] Jervell and Lange-Nielson syndrome; Jervell and Lange-Nielson syndrome (disorder) [-]	n_a
juvenile astrocytoma	Juvenile astrocytoma; Juvenile astrocytoma (morphologic abno.. [+] Juvenile astrocytoma; Juvenile astrocytoma (morphologic abnormality); pediatric astrocytoma [-]	n_a
junctional epidermolysis bullosa	congenital junctional epidermolysis bullosa (disorder); cong.. [+] congenital junctional epidermolysis bullosa (disorder); congenital junctional epidermolysis bullosa [-]	An epidermolysis bullosa that is characterized by recurrent ..[+] An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. [-]
jejunal somatostatinoma	jejunal delta cell somatostatin producing tumor; Somatosatin.. [+] jejunal delta cell somatostatin producing tumor; Somatosatinoma of Jejunum [-]	n_a
jejunal neoplasm	Jejunal tumor; neoplasm of jejunum; tumor of jejunum	n_a
Job's syndrome	Job syndrome; hyperimmunoglobulin E syndrome	n_a
juxtacortical osteosarcoma	Parosteal Osteogenic sarcoma; Parosteal Osteosarcoma	n_a
juvenile xanthogranuloma	Multiple eruptive juvenile xanthogranuloma; Naevoxanthoendot.. [+] Multiple eruptive juvenile xanthogranuloma; Naevoxanthoendothelioma; Xanthoma neviforme [-]	n_a
juvenile myoclonic epilepsy	Janz syndrome	A adolescence-adult electroclinical syndrome that is charact..[+] A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. [-]
juxtacortical chondrosarcoma	Juxtacortical chondrosarcoma (morphologic abnormality)	n_a
juvenile type testicular granulosa cell tumor	juvenile type testicular granulosa cell tumour; Juvenile typ.. [+] juvenile type testicular granulosa cell tumour; Juvenile type Granulosa cell tumour; Juvenile granulosa cell tumor; Juvenile type Granulosa cell tumor; juvenile type granulosa cell neoplasm; Juvenile granulosa cell tumour; Juvenile granulosa cell tumor (morphologic abnormality) [-]	n_a
jugular foramen meningioma	meningioma of the Jugular Foramen	n_a
juvenile pilocytic astrocytoma		A pilocytic astrocytoma that occurs during adolescence.
Jewett-Marshall bladder cancer	Jewett-Marshall stage D2 bladder cancer; Jewett-Marshall sta.. [+] Jewett-Marshall stage D2 bladder cancer; Jewett-Marshall stage D1 bladder cancer; stage IVB urinary bladder carcinoma [-]	n_a
juvenile dermatitis herpetiformis	Juvenile dermatitis herpetiformis; Juvenile dermatitis herpe.. [+] Juvenile dermatitis herpetiformis; Juvenile dermatitis herpetiformis (disorder) [-]	n_a
Japanese encephalitis	Japanese B encephalitis	A viral infectious disease that results_in infection located..[+] A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. [-]
juvenile spinal muscular atrophy	Kugelberg-Welander disease; SMA3; Spinal muscular atrophy, f.. [+] Kugelberg-Welander disease; SMA3; Spinal muscular atrophy, familial; Type III Spinal Muscular Atrophy; spinal muscular atrophy of childhood; Spinal Muscular Atrophy Type 3 [-]	A childhood spinal muscular atrophy that has age of onset af..[+] A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk. [-]
Jaccoud's syndrome	Jaccoud syndrome	n_a
jejunal cancer	malignant neoplasm of jejunum; malignant tumor of jejunum (d.. [+] malignant neoplasm of jejunum; malignant tumor of jejunum (disorder); malignant tumor of jejunum [-]	n_a
Johanson-Blizzard syndrome	JBS; Johanson-Blizzard syndrome (disorder)	A syndrome that involves abnormal development of the pancrea..[+] A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. [-]
juvenile ankylosing spondylitis		An autoimmune disease of musculoskeletal system that is an a..[+] An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood. [-]
Japanese spotted fever	oriental spotted fever; Rickettsia japonica spotted fever	A spotted fever that has_material_basis_in Rickettsia japoni..[+] A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. [-]
juvenile myelomonocytic leukemia		A myelodysplastic/myeloproliferative neoplasm that is charac..[+] A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. [-]
JMP syndrome	JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND.. [+] JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY [-]	A syndrome that is characterized by childhood onset of joint..[+] A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32. [-]
Joubert syndrome	JBTS	A ciliopathy that is characterized by congenital malformatio..[+] A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [-]
juvenile polyposis syndrome		A gastrointestinal system disease that is characterized by p..[+] A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. [-]
jejunal adenocarcinoma		A jejunal cancer that is located_in the jejunum and has_mate..[+] A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. [-]
janus kinase-3 deficiency		n_a
juvenile absence epilepsy		An adolescence-adult electroclinical syndrome statring betwe..[+] An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. [-]
jejunoileitis		An inflammatory bowel disease that is characterized by patch..[+] An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. [-]
Joubert syndrome with orofaciodigital defect	orofaciodigital syndrome VI; OFD6; Varadi-Papp syndrome; Pol.. [+] orofaciodigital syndrome VI; OFD6; Varadi-Papp syndrome; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome [-]	A Joubert syndrome that is characterized by orofaciodigital ..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
junctional epidermolysis bullosa with pyloric atresia	junctional epidermolysis bullosa-pyloric atresia syndrome; J.. [+] junctional epidermolysis bullosa-pyloric atresia syndrome; JEB-PA; Carmi syndrome; epidermolysis bullosa junctionalis with pyloric atresia [-]	A junctional epidermolysis bullosa characterized by generali..[+] A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. [-]
junctional epidermolysis bullosa Herlitz type	JEB-Herlitz type; junctional epidermolysis bullosa, Herlitz-.. [+] JEB-Herlitz type; junctional epidermolysis bullosa, Herlitz-Pearson type; junctional epidermolysis bullosa generalisata gravis; JEB-H; Herlitz type epidermolysis bullosa junctionalis; Herlitz-Pearson-type epidermolysis bullosa; epidermolysis bullosa letalis [-]	A junctional epidermolysis bullosa characterized by autosoma..[+] A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. [-]
junctional epidermolysis bullosa non-Herlitz type	junctional epidermolysis bullosa, Disentis type; junctional .. [+] junctional epidermolysis bullosa, Disentis type; junctional epidermolysis bullosa generalisata mitis; JEN-nH; JEB-nH gen; GABEB; generalized atrophic benign epidermolysis bullosa; generalized junctional epidermolysis bullosa, non-Herlitz type [-]	A junctional epidermolysis bullosa characterized by skin and..[+] A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. [-]
juvenile onset Parkinson disease 19A		A Parkinson's disease that has_material_basis_in homozygous ..[+] A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. [-]
juvenile-onset Parkinson disease		n_a
Jansen's metaphyseal chondrodysplasia	Jansen metaphyseal chondrodysplasia; Jansen Metaphyseal Dyso.. [+] Jansen metaphyseal chondrodysplasia; Jansen Metaphyseal Dysostosis; Jansen Disease; Murk Jansen Type Metaphyseal Chondrodysplasia [-]	A metaphyseal dysplasia that has_material_basis_in mutation ..[+] A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. [-]
Joubert syndrome 30		A Joubert syndrome that has_material_basis_in homozygous or ..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. [-]
Joubert syndrome 31		A Joubert syndrome that has_material_basis_in homozygous or ..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. [-]
Joubert syndrome 33		A Joubert syndrome that has_material_basis_in homozygous or ..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. [-]
juvenile amyotrophic lateral sclerosis with dementia	ALS-dementia complex	A juvenile amyotrophic lateral sclerosis that is slowly prog..[+] A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. [-]
Joubert syndrome 1	JBTS1; cerebellooculorenal syndrome 1; cerebelloparenchymal .. [+] JBTS1; cerebellooculorenal syndrome 1; cerebelloparenchymal disorder IV; CORS1; CPD4 [-]	A Joubert syndrome that has_material_basis_in homozygous mut..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. [-]
Joubert syndrome 10	JBTS10	A Joubert syndrome that has_material_basis_in X-linked reces..[+] A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. [-]
Joubert syndrome 13	JBTS13	A Joubert syndrome that has_material_basis_in homozygous or ..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. [-]
Joubert syndrome 14	JBTS14	A Joubert syndrome characterized by severe mental retardatio..[+] A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. [-]

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