Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10

Disease	Synonyms	Description	Articles	Phenotypes
wild-type amyloidosis	Old age amyloidosis; Age related amyloidosis; ATTR.. [+] Old age amyloidosis; Age related amyloidosis; ATTRwt amyloidosis; senile systemic amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis [-]	An amyloidosis that is characterized by progressiv..[+] An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. [-]
Harel-Yoon syndrome	Ocular anomalies-axonal neuropathy-developmental d.. [+] Ocular anomalies-axonal neuropathy-developmental delay syndrome [-]	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. [-]
Schwartz-Jampel syndrome 1	osteochondromuscular dystrophy; Aberfeld syndrome; .. [+] osteochondromuscular dystrophy; Aberfeld syndrome; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel-Aberfeld syndrome; Burton skeletal dysplasia; Schwartz-Jampel syndrome type 1 [-]	A syndrome characterized by neuromyotonia and chon..[+] A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
renal coloboma syndrome	optic coloboma, vesicoureteral reflux and renal an.. [+] optic coloboma, vesicoureteral reflux and renal anomalies; CAKUT with or without ocular abnormalities; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities; papillo-renal syndrome, optic nerve coloboma with renal disease; coloboma of optic nerve with renal disease [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
Charcot-Marie-Tooth disease X-linked recessive 5	optic atrophy, polyneuropathy, and deafness; Charc.. [+] optic atrophy, polyneuropathy, and deafness; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; X-linked Charcot-Marie-Tooth disease type 5; CMTX5; Rosenberg-Chutorian syndrome [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
autosomal dominant osteopetrosis 1	OPTA1; autosomal dominant osteopetrosis type 1	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	OPTA2; osteopetrosis autosomal dominant type 2; Al.. [+] osteopetrosis autosomal dominant type 2; OPTA2; Albers-Schonberg osteopetrosis; autosomal dominant osteopetrosis type II; autosomal dominant Albers-Schonberg disease [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 5	OPTB5; infantile malignant osteopetrosis 3	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [-]
autosomal recessive osteopetrosis 8	OPTB8	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. [-]
autosomal recessive osteopetrosis 3	osteopetrosis with renal tubular acidosis; OPTB3; .. [+] OPTB3; osteopetrosis with renal tubular acidosis; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
autosomal recessive osteopetrosis 1	OPTB1; autosomal recessive Albers-Schonberg diseas.. [+] OPTB1; autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. [-]
autosomal recessive osteopetrosis 2	OPTB2; osteoclast-poor osteopetrosis; mild autosom.. [+] osteoclast-poor osteopetrosis; OPTB2; mild autosomal recessive form osteopetrosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. [-]
autosomal recessive osteopetrosis 4	OPTB4; infantile malignant osteopetrosis 2	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 6	OPTB6; autosomal recessive osteopetrosis intermedi.. [+] OPTB6; autosomal recessive osteopetrosis intermediate form [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. [-]
autosomal recessive osteopetrosis 7	osteopetrosis-hypogammaglobulinemia syndrome; oste.. [+] osteopetrosis-hypogammaglobulinemia syndrome; osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; autosomal recessive osteopetrosis type 7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. [-]
brachydactyly type A6	Osebold-Remondini syndrome; BDA6; brachymesophalan.. [+] Osebold-Remondini syndrome; BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities [-]	A brachydactyly characterized by brachymesophalang..[+] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. [-]
congenital bile acid synthesis defect 3	oxysterol 7-alpha-hydroxylase deficiency; CBAS3	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. [-]
postural orthostatic tachycardia syndrome	orthostatic intolerance due to NET deficiency; orh.. [+] orthostatic intolerance due to NET deficiency; orhtostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
uveal coloboma-cleft lip and palate-intellectual disability	ocular coloboma with or without hearing impairment.. [+] ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation; COB1; coloboma-microphthalmos syndrome; Uveal coloboma-cleft lip/palate-mental retardation syndrome; coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate [-]	A syndrome characterized by uveal coloboma and var..[+] A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. [-]
congenital leptin deficiency	obesity due to congenital leptin deficiency; LEPD; .. [+] obesity due to congenital leptin deficiency; LEPD; morbid obesity; leptin deficiency or dysfunction [-]	A syndrome characterized by severe early-onset obe..[+] A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. [-]
dominant optic atrophy plus syndrome	optic atrophy with or without deafness, ophthalmop.. [+] optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; DOA+ [-]	A syndrome characterized by visual loss and sensor..[+] A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
IVIC syndrome	oculo-oto-radial syndrome; OORS; Oculootoradial sy.. [+] OORS; oculo-oto-radial syndrome; Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Instituto Venezolano de Investigaciones Cientificas syndrome [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]
Kaufman oculocerebrofacial syndrome	oculocerebrofacial syndrome, Kaufman type; blephar.. [+] oculocerebrofacial syndrome, Kaufman type; blepharophimosis ptosis intellectual disability syndrome; 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 compund heterozygous mutation in the UBE3B gene on chromosome 12q24.11. [-]
linear nevus sebaceous syndrome	organoid nevus syndrome; organoid nevus phakomatos.. [+] organoid nevus syndrome; organoid nevus phakomatosis; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; nevus sebaceus syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome; nevus sebaceus of Jadassohn; JNP; Schimmelpenning Feuerstein Mims 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. [-]
bilateral optic nerve hypoplasia	ONH; familial bilateral optic nerve hypoplasia; is.. [+] ONH; familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia [-]	An optic nerve disease characterized by isolated o..[+] An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
gnathodiaphyseal dysplasia	osteogenesis imperfecta, Levin type; osteogenesis .. [+] osteogenesis imperfecta, Levin type; osteogenesis imperfecta with unusual skeletal lesions; GDD; gnathodiaphyseal sclerosis; Levin syndrome 2 [-]	An osteochondrodysplasia characterized by cementoo..[+] An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. [-]
progressive osseous heteroplasia	osteoma cutis; ectopic ossification familial type; .. [+] osteoma cutis; ectopic ossification familial type; familial ectopic ossification; POH [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]
Buschke-Ollendorff syndrome	osteopathia condensans disseminata; BOS; dermatofi.. [+] osteopathia condensans disseminata; BOS; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; dermatoosteopoikilosis [-]	A syndrome characterized by multiple subcutaneous ..[+] A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. [-]
Behr syndrome	optic atrophy, infantile hereditary, Behr complica.. [+] optic atrophy, infantile hereditary, Behr complicated form of; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; Abortive cerebellar ataxia (BEHRS); BEHRS [-]	A nervous system disease characterized by early-on..[+] A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
C syndrome	Opitz trigonocephaly syndrome; OTCS; Opitz trigono.. [+] OTCS; Opitz trigonocephaly syndrome; Opitz trigonocephaly C syndrome; Opitz C trigonocephaly; trigonocephaly C syndrome [-]	A syndrome characterized by trigonocephaly, psycho..[+] A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. [-]
congenital heart defects, hamartomas of tongue, and polysyndactyly	Ostravik-Lindemann-Solberg syndrome; heart defect-.. [+] Ostravik-Lindemann-Solberg syndrome; heart defect-tongue hamartoma-polysyndactyly syndrome; CHDTHP [-]	A syndrome characterized by congenital heart defec..[+] A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. [-]
distal arthrogryposis type 5	oculomelic amyoplasia; DA5; DAIIB; distal arthrogr.. [+] oculomelic amyoplasia; DA5; DAIIB; distal arthrogryposis with ophthalmoplegia; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; distal arthrogryposis type IIB [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. [-]
primary hyperoxaluria type 1	oxalosis I; alanine-glyoxylate aminotransferase de.. [+] oxalosis I; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; glycolic aciduria; serine pyruvate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
primary hyperoxaluria type 2	oxalosis II; oxalosis IIglyoxylate reductase/hydro.. [+] oxalosis II; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
proprotein convertase 1/3 deficiency	obesity with impaired prohormone processing; obesi.. [+] obesity with impaired prohormone processing; obesity due to prohormone convertase I deficiency; obesity and endocrinopathy due to impaired processing of prohormones; PCI deficiency [-]	A syndrome characterized by severe childhood obesi..[+] A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. [-]
Melnick-Needles syndrome	osteodysplasty of Melnick and Needles; Melnick-Nee.. [+] osteodysplasty of Melnick and Needles; Melnick-Needles osteodysplasty; MNS [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. [-]
syndromic microphthalmia 2	oculofaciocardiodental syndrome; OFCD syndrome; ca.. [+] OFCD syndrome; oculofaciocardiodental syndrome; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; syndromic microphthalmia type 2; microphthalmia cataracts radiculomegaly and septal heart defects; ANOP2 [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]	1 articles	14 matches
immunodeficiency 16	OX40 deficiency; combined immunodeficiency due to .. [+] OX40 deficiency; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; IMD16 [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. [-]
mutilating palmoplantar keratoderma with periorificial keratotic plaques	OLMS; Olmsted syndrome; mutilating palmoplantar hy.. [+] Olmsted syndrome; OLMS; mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; palmoplantar and periorificial keratoderma [-]	A keratosis characterized by a bilateral mutilatin..[+] A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. [-]
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques	OLMSX; X-linked Olmsted syndrome	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	OLMS1; Olmsted syndrome 1; autosomal dominant Olms.. [+] Olmsted syndrome 1; OLMS1; autosomal dominant Olmsted syndrome [-]	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. [-]
terminal osseous dysplasia	ODPD; ODPF syndrome; digital osseous dysplasia wit.. [+] ODPF syndrome; ODPD; digital osseous dysplasia with facial pigmentary defects and multiple frenula; terminal osseous dysplasia-pigmentary defects syndrome; TOD; TODPD [-]	A syndrome characterized by skeletal dysplasia of ..[+] A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. [-]
Bosch-Boonstra-Schaaf optic atrophy syndrome	optic atrophy-intellectual disability syndrome; BB.. [+] optic atrophy-intellectual disability syndrome; BBSOAS [-]	A syndrome characterized by delayed development, m..[+] A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10