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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
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. [-]
Jervell-Lange Nielsen syndrome	Jervell and Lange-Nielson syndrome (disorder); Jer.. [+] Jervell and Lange-Nielson syndrome (disorder); Jervell and Lange-Nielson syndrome; [-]	n_a	3 articles
Jewett-Marshall bladder cancer	Jewett-Marshall stage D1 bladder cancer; stage IVB.. [+] Jewett-Marshall stage D1 bladder cancer; stage IVB urinary bladder carcinoma; Jewett-Marshall stage D2 bladder cancer; [-]	n_a
Johanson-Blizzard syndrome	Johanson-Blizzard syndrome (disorder); JBS;	A syndrome that involves abnormal development of t..[+] 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. [-]
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. [-]	5 articles
Joubert syndrome 1	cerebellooculorenal syndrome 1; cerebelloparenchym.. [+] cerebellooculorenal syndrome 1; cerebelloparenchymal disorder IV; CORS1; CPD4; JBTS1; [-]	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. [-]	1 articles
Joubert syndrome 18	JBTS18;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. [-]
Joubert syndrome 2	cerebellooculorenal syndrome 2; CORS2; JBTS2;	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. [-]
Joubert syndrome 20	JBTS20;	A Joubert syndrome that has_material_basis_in comp..[+] A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. [-]
Joubert syndrome 21	JBTS21;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. [-]
Joubert syndrome 22	JBTS22;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. [-]
Joubert syndrome 23	JBTS23;	A Joubert syndrome characterized by delayed develo..[+] A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. [-]
Joubert syndrome 24	JBTS24;	A Joubert syndrome characterized by delayed psycho..[+] A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. [-]
Joubert syndrome 25	JBTS25;	A Joubert syndrome characterized by delayed psycho..[+] A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. [-]
Joubert syndrome 26	JBTS26;	A Joubert syndrome characterized by global develop..[+] A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. [-]
Joubert syndrome 27	JBTS27;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. [-]
Joubert syndrome 28	JBTS28;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. [-]
Joubert syndrome 3	JBTS3;	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. [-]
Joubert syndrome 30		A Joubert syndrome that has_material_basis_in homo..[+] 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 homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. [-]
Joubert syndrome 32		A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. [-]
Joubert syndrome 33		A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. [-]
Joubert syndrome 4	JBTS4;	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. [-]
Joubert syndrome 5	JBTS5;	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. [-]
Joubert syndrome 6	JBTS6;	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. [-]
Joubert syndrome 7	JBTS7;	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. [-]
Joubert syndrome 8	JBTS8;	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. [-]
Joubert syndrome 9	JBTS9;	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. [-]
Joubert syndrome with orofaciodigital defect	OFD6; Varadi-Papp syndrome; Polydactyly cleft lip .. [+] OFD6; Varadi-Papp syndrome; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome; orofaciodigital syndrome VI; [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
KBG syndrome		A syndrome that is characterized by short stature,..[+] A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. [-]
KINSSHIP syndrome	AFF3-related mesomelic dysplasia; KINS; Steichen-G.. [+] AFF3-related mesomelic dysplasia; KINS; Steichen-Gersdorf type mesomelic dysplasia; [-]	A syndrome characterized by developmental delay, i..[+] A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. [-]
Kabuki syndrome	Kabuki make up syndrome; Niikawa-Kuroki syndrome; .. [+] Kabuki make up syndrome; Niikawa-Kuroki syndrome; KMS; [-]	A syndrome characterized by multiple congenital an..[+] A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [-]	4 articles	27 matches
Kagami-Ogata syndrome	KOS;	A syndrome characterized by polyhydramnios, fetal ..[+] A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. [-]
Kahrizi syndrome	intellectual disability, Kahrizi type; intellectua.. [+] intellectual disability, Kahrizi type; intellectual disability-cataract-coloboma-kyphosis syndrome; KHRZ; [-]	A syndrome that is characterized by mental retarda..[+] A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. [-]
Kallmann syndrome	familial hypogonadism with anosmia; Hypogonadism w.. [+] familial hypogonadism with anosmia; Hypogonadism with anosmia (disorder); Kallman syndrome; Kallman's syndrome; Hypogonadism with anosmia; [-]	A hypogonadotropic hypogonadism with a defective s..[+] A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). [-]	2 articles
Kanzaki disease	adult-onset alpha-N-acetylgalactosaminidase defici.. [+] adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase deficiency type 2; NAGA deficiency type 2; [-]	A Schindler disease characterized by adult-onset o..[+] A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. [-]
Kaposi's sarcoma	African lymphadenopathic Kaposi's sarcoma; anal Ka.. [+] African lymphadenopathic Kaposi's sarcoma; anal Kaposi's sarcoma; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of Heart; Kaposi's sarcoma of lung (disorder); Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin (disorder); Kaposi's sarcoma of soft tissue (disorder); Kaposi's sarcoma of soft tissues (disorder); Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma, lung; Kaposi's sarcoma-associated herpesvirus (KSHV); lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; prostate Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of esophagus; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma, skin; pulmonary Kaposi's sarcoma; cardiac Kaposi's sarcoma; conjunctival Kaposi's sarcoma; corneal Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of palate; Kaposi's sarcoma of skin; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of the prostate; lymph node Kaposi's sarcoma; Palate Kaposi's sarcoma; penis Kaposi's sarcoma; gastric Kaposi's sarcoma; Kaposi's sarcoma of lung; Kaposi's sarcoma of soft tissues; [-]	A connective tissue cancer that derives_from lymph..[+] A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). [-]
Kartagener syndrome	Kartagener's syndrome;	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. [-]
Kaufman oculocerebrofacial syndrome	blepharophimosis ptosis intellectual disability sy.. [+] blepharophimosis ptosis intellectual disability syndrome; oculocerebrofacial syndrome, Kaufman type; KOS; [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. [-]
Kawasaki disease	acute febrile mucocutaneous lymph node syndrome [M.. [+] acute febrile mucocutaneous lymph node syndrome [MCLS]; MLNS; mucocutaneous lymph node syndrome; Kawasaki's disease; acute febrile mucocutaneous lymph node syndrome; acute febrile MCLS; [-]	A lymphadenitis characterized by swelling of cervi..[+] A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. [-]
Kearns-Sayre syndrome	Kearns-Sayre syndrome (disorder);	n_a
Keipert syndrome	KPTS; nasodigitoacoustic syndrome;	A syndrome characterized by craniofacial and digit..[+] A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. [-]
Kennedy's disease	Kennedy disease; SBMA; spinal bulbar muscular atro.. [+] Kennedy disease; SBMA; spinal bulbar muscular atrophy; X-Linked Bulbo-Spinal Atrophy; X-linked Spinal and Bulbar Muscular Atrophy; Spinobulbar Muscular Atrophy; [-]	A spinal muscular dystrophy that has_material_basi..[+] A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. [-]	1 articles

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