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Disease	Synonyms	Description
jaw-winking syndrome	Jaw-blinking; abnormal innervation syndrome of eye.. [+] Jaw-blinking; abnormal innervation syndrome of eyelid; Marcus-Gunn syndrome; Pterygoid-levator synkinesis [-]	n_a
juvenile rheumatoid arthritis	juvenile idiopathic arthritis; juvenile chronic po.. [+] juvenile idiopathic arthritis; juvenile chronic polyarthritis; acute juvenile rheumatoid arthritis; monarticular juvenile rheumatoid arthritis; pauciarticular juvenile arthritis; Pauciarticular onset juvenile chronic arthritis; systemic juvenile rheumatoid arthritis [-]	A rheumatoid arthritis that involves an autoimmune..[+] 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 t..[+] 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 (morphologic abnormality); .. [+] Juxtacortical chondroma (morphologic abnormality); Periosteal Chondroma [-]	n_a
Jervell-Lange Nielsen syndrome	Jervell and Lange-Nielson syndrome (disorder)	n_a
juvenile astrocytoma	Juvenile astrocytoma (morphologic abnormality); Ju.. [+] Juvenile astrocytoma (morphologic abnormality); Juvenile astrocytoma; pediatric astrocytoma [-]	n_a
junctional epidermolysis bullosa	congenital junctional epidermolysis bullosa (disor.. [+] congenital junctional epidermolysis bullosa (disorder) [-]	n_a
jejunal somatostatinoma	jejunal delta cell somatostatin producing tumor; S.. [+] jejunal delta cell somatostatin producing tumor; Somatosatinoma of Jejunum [-]	n_a
jejunal neoplasm	Jejunal tumor; neoplasm of jejunum; tumor of jejun.. [+] 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 Osteosarco.. [+] Parosteal Osteogenic sarcoma; Parosteal Osteosarcoma [-]	n_a
juvenile xanthogranuloma	Multiple eruptive juvenile xanthogranuloma; Naevox.. [+] Multiple eruptive juvenile xanthogranuloma; Naevoxanthoendothelioma; Xanthoma neviforme [-]	n_a
juvenile myoclonic epilepsy	Janz syndrome	A adolescence-adult electroclinical syndrome that ..[+] 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 abnormal.. [+] Juxtacortical chondrosarcoma (morphologic abnormality) [-]	n_a
juvenile type testicular granulosa cell tumor	Juvenile type Granulosa cell tumor; juvenile type .. [+] 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		n_a
Jewett-Marshall bladder cancer	Jewett-Marshall stage D2 bladder cancer; Jewett-Ma.. [+] 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 (disorder)	n_a
Japanese encephalitis	Japanese B encephalitis	A viral infectious disease that results_in infecti..[+] 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 .. [+] Kugelberg-Welander disease; SMA3; spinal muscular atrophy of childhood; Spinal muscular atrophy, familial; Type III Spinal Muscular Atrophy [-]	n_a
Jaccoud's syndrome	Jaccoud syndrome	n_a
jejunal cancer	malignant neoplasm of jejunum; malignant tumor of .. [+] malignant neoplasm of jejunum; malignant tumor of jejunum (disorder) [-]	n_a
Johanson-Blizzard syndrome	Johanson-Blizzard syndrome (disorder)	An autosomal recessive disease that involves abnor..[+] An autosomal recessive disease 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. [-]
Japanese spotted fever	oriental spotted fever; Rickettsia japonica spotte.. [+] oriental spotted fever; Rickettsia japonica spotted fever [-]	A spotted fever that has_material_basis_in Rickett..[+] 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		n_a
JMP syndrome	JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC A.. [+] JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease 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. [-]
Joubert syndrome	JBTS	A ciliopathy that is characterized by congenital m..[+] 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		An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. [-]
Jensen syndrome	opticoacoustic nerve atrophy with dementia	A syndrome that is characterized by sensorineural ..[+] A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. [-]
jejunal adenocarcinoma		A jejunal cancer that is located_in the jejunum an..[+] 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 stat..[+] 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 characterize..[+] 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	OFD6; orofaciodigital syndrome VI; Varadi syndrome.. [+] OFD6; orofaciodigital syndrome VI; Varadi syndrome; Varadi-Papp syndrome [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
junctional epidermolysis bullosa with pyloric atresia	junctional epidermolysis bullosa-pyloric atresia s.. [+] junctional epidermolysis bullosa-pyloric atresia syndrome; JEB-PA; Carmi syndrome; epidermolysis bullosa junctionalis with pyloric atresia [-]	A junctional epidermolysis bullosa characterized b..[+] 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	junctional epidermolysis bullosa, Herlitz-Pearson .. [+] junctional epidermolysis bullosa, Herlitz-Pearson type; junctional epidermolysis bullosa generalisata gravis; JEB-Herlitz type; JEB-H; epidermolysis bullosa letalis; Herlitz type epidermolysis bullosa junctionalis; Herlitz-Pearson-type epidermolysis bullosa [-]	A junctional epidermolysis bullosa characterized b..[+] 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; j.. [+] 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 b..[+] 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 h..[+] 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 Dysostosis; Jansen metaphyseal .. [+] Jansen Metaphyseal Dysostosis; Jansen metaphyseal chondrodysplasia; Jansen Disease; Murk Jansen Type Metaphyseal Chondrodysplasia [-]	A metaphyseal dysplasia that has_material_basis_in..[+] A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. [-]
juvenile amyotrophic lateral sclerosis with dementia	ALS-dementia complex	A juvenile amyotrophic lateral sclerosis that is s..[+] A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. [-]
Joubert syndrome 1	JBTS1; cerebellooculorenal syndrome 1; cerebellopa.. [+] JBTS1; cerebellooculorenal syndrome 1; cerebelloparenchymal disorder IV; CORS1; CPD4 [-]	A Joubert syndrome that has_material_basis_in homo..[+] 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-li..[+] 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 homo..[+] 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 ..[+] 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. [-]
Joubert syndrome 15	JBTS15	A Joubert syndrome characterized by ataxia, hypoto..[+] A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. [-]
Joubert syndrome 16	JBTS16	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. [-]
Joubert syndrome 17	JBTS17	A Joubert syndrome characterized by episodic hyper..[+] A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. [-]

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