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Disease	Synonyms	Description	Articles	Phenotypes
Blau syndrome	Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMATOSIS; .. [+] Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMATOSIS; BLAUS [-]	A syndrome characterized by familial granulomatous..[+] A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [-]
deafness-dystonia-optic neuronopathy syndrome	Jensen syndrome; Deafness Dystonia Optic Atrophy S.. [+] Jensen syndrome; Deafness Dystonia Optic Atrophy Syndrome; Dystonia Deafness Syndrome; Mohr-Tranebjaerg Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome (DDON); Deafness Dystonia Optic Neuronopathy Syndrome; deafness dystonia syndrome; Mohr-Tranebjaerg syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. [-]
Meesmann corneal dystrophy	juvenile hereditary epithelial dystrophy; MECD; St.. [+] juvenile hereditary epithelial dystrophy; MECD; Stocker-Holt dystrophy [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. [-]
developmental and epileptic encephalopathy 9	Juberg Hellman syndrome; early infantile female-li.. [+] Juberg Hellman syndrome; early infantile female-limited epilecptic encephalopathy; EFMR; female restricted epilepsy with mental retardation; EIEE9; DEE9; early infantile epileptic encephalopathy 9 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
Parkinson's disease 19A	juvenile onset Parkinson's disease 19A; juvenile o.. [+] juvenile onset Parkinson's disease 19A; juvenile onset Parkinson disease 19A [-]	An early-onset Parkinson's diseas that has_materia..[+] An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. [-]
Schmid metaphyseal chondrodysplasia	Japanese type spondylometaphyseal dysplasia; Schmi.. [+] Japanese type spondylometaphyseal dysplasia; Schmid type metaphyseal dysplasia [-]	A metaphyseal dysplasia that results_in dwarfism a..[+] A metaphyseal dysplasia that results_in dwarfism and bowed legs. [-]
Paget's disease of bone 5	Juvenile Paget disease; Familial osteoectasia; Her.. [+] Juvenile Paget disease; Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Paget disease of bone-5 [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Jacobs syndrome; CACP; CACP syndrome; congenital f.. [+] Jacobs syndrome; CACP; CACP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; CAP syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
cataract 46 juvenile-onset	juvenilae cataract Hutterite type; CTRCT46	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. [-]
Stromme syndrome	jejunal atresia with microcephaly and ocular anoma.. [+] jejunal atresia with microcephaly and ocular anomalies; CILD31; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31; apple peel syndrome with microcephaly and ocular anomalies [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
neuronal ceroid lipofuscinosis 3	juvenile neuronal ceroid lipofuscinosis; CLN3; Bat.. [+] juvenile neuronal ceroid lipofuscinosis; CLN3; Batten disease [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. [-]
hemochromatosis type 2	juvenile hemochromatosis; JHH; HFE2	A hemochromatosis characterized by autosomal reces..[+] A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. [-]
nephronophthisis 1	juvenile nephronophthisis 1; NPHP1; NPH1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. [-]
nephronophthisis 4	juvenile nephronophthisis 4; NPHP4	A nephronophthisis that has_material_basis_in muta..[+] A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. [-]
spinal muscular atrophy with progressive myoclonic epilepsy	Jankovic-Rivera syndrome; hereditary myoclonus-pro.. [+] Jankovic-Rivera syndrome; hereditary myoclonus-progressive distal muscular atrophy syndrome; SMA-PME; SMAPME [-]	A motor neuron disease characterized by severe and..[+] A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. [-]
linear nevus sebaceous syndrome	Jadassohn nevus phakomatosis; JNP; Nevus sebaceus .. [+] JNP; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome; nevus sebaceus of Jadassohn; Schimmelpenning Feuerstein Mims syndrome; organoid nevus syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
spondylometaphyseal dysplasia Kozlowski type	Jequier-Kozlowski syndrome; Jequier Kozlowski skel.. [+] Jequier-Kozlowski syndrome; Jequier Kozlowski skeletal dysplasia; dysmorphism arthrogryposis skeletal maturation advanced; skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type [-]	A spondylometaphyseal dysplasia characterized by v..[+] A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
COACH syndrome	Joubert syndrome with hepatic defect; Joubert synd.. [+] Joubert syndrome with hepatic defect; Joubert syndrome with congenital hepatic fibrosis; JS-H; cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Gentile syndrome [-]	A syndrome characterized by autosomal recessive in..[+] A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). [-]
developmental and epileptic encephalopathy 84	Jamuar syndrome; DEE84; early infantile epileptic .. [+] Jamuar syndrome; DEE84; early infantile epileptic encephalopathy 84 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. [-]

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