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Disease	Synonyms	Description
autosomal dominant nonsyndromic deafness 70	autosomal dominant deafness 70; DFNA70	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. [-]
autosomal dominant nonsyndromic deafness 9	autosomal dominant deafness 9; DFNA9	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. [-]
arthrogryposis due to muscular dystrophy	congenital muscular dystrophy producing arthrogryp.. [+] congenital muscular dystrophy producing arthrogryposis [-]	A congenital muscular dystrophy characterized by n..[+] A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. [-]
autosomal recessive polycystic kidney disease	Arpkd; Pkhd1; Polycystic Kidney and Hepatic Diseas.. [+] Arpkd; Pkhd1; Polycystic Kidney and Hepatic Disease 1; Polycystic Kidney Disease, Infantile, Type I [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. [-]
adult hypophosphatasia	mild hypophosphatasia	A hypophosphatasia that has_material_basis_in a he..[+] A hypophosphatasia that has_material_basis_in a heterozygous mutation of ALPL on chromosome 1p36.12. [-]
autosomal dominant osteopetrosis 1	autosomal dominant osteopetrosis type 1; OPTA1	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	autosomal dominant osteopetrosis type II; autosoma.. [+] autosomal dominant osteopetrosis type II; autosomal dominant Albers-Schonberg disease; Albers-Schonberg osteopetrosis; OPTA2; osteopetrosis autosomal dominant type 2 [-]	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	infantile malignant osteopetrosis 3; OPTB5	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	autosomal recessive osteopetrosis 3 with renal tub.. [+] autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease; OPTB3; osteopetrosis with renal tubular acidosis [-]	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	autosomal recessive Albers-Schonberg disease; infa.. [+] autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1; OPTB1 [-]	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	mild autosomal recessive form osteopetrosis; OPTB2.. [+] mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor 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	infantile malignant osteopetrosis 2; OPTB4	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	autosomal recessive osteopetrosis intermediate for.. [+] autosomal recessive osteopetrosis intermediate form; OPTB6 [-]	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	autosomal recessive osteopetrosis type 7; autosoma.. [+] autosomal recessive osteopetrosis type 7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis-hypogammaglobulinemia syndrome [-]	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. [-]
atypical Gaucher's disease due to saposin c deficiency		A Gaucher's disease that has_material_basis_in com..[+] A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. [-]
African iron overload	Bantu siderosis; iron overload in Africa	A hemochromatosis characterized by a predispositio..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]
Ambras type hypertrichosis universalis congenita	Ambras syndrome; HTC1	A hypertrichosis characterized by autosomal domina..[+] A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. [-]
autosomal recessive distal spinal muscular atrophy 2	dHMNJ; distal hereditary motor neuropathy Jerash t.. [+] dHMNJ; distal hereditary motor neuropathy Jerash type; DSMA2; spinal muscular atrophy Jerash type [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. [-]
acquired von Willebrand syndrome	AVWS	A blood coagulation disease characterized by devel..[+] A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. [-]
angioimmunoblastic T-cell lymphoma		A peripheral T-cell lymphoma characterized by auto..[+] A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. [-]
autosomal recessive isolated ectopia lentis 2	ECTOL2	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. [-]
autosomal dominant isolated ectopia lentis 1	ECTOL1	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. [-]
autosomal recessive spinocerebellar ataxia 21	autosomal recessive spinocerebellar ataxia 21 with.. [+] autosomal recessive spinocerebellar ataxia 21 with hepatopathy; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; SCAR21 [-]	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. [-]
autosomal dominant sensory ataxia 1	ADSA; SNAX1	A hereditary ataxia characterized by gait difficul..[+] A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	autosomal dominant late-onset spinal muscular atro.. [+] autosomal dominant late-onset spinal muscular atrophy, Finkel type; autosomal dominant adult-onset proximal SMA; autosomal dominant adult proximal spinal muscular atrophy; Finkel disease; Finkel late-adult type SMA; SMAFK [-]	A spinal muscular atrophy characterized by adult-o..[+] A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. [-]
Alzheimer's disease 9	Alzheimer's disease 9, late onset; AD9	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. [-]
autosomal dominant progressive external ophthalmoplegia 1	PEOA1	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3	autosomal recessive progressive external ophthalmo.. [+] autosomal recessive progressive external ophthalmoplegia 3; PEOB3 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. [-]
asthma, nasal polyps, and aspirin intolerance	ASA triad	A respiratory system disease characterized by asth..[+] A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. [-]
autosomal recessive spinocerebellar ataxia 3	autosomal recessive spinocerebellar ataxia-blindne.. [+] autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia type 3; SCABD; SCAR3 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. [-]
autosomal recessive spinocerebellar ataxia 27	SCAR27	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. [-]
autosomal recessive nonsyndromic deafness 113	autosomal recessive deafness 113; DFNB113	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 109	autosomal recessive deafness 109; DFNB109	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. [-]
autosomal recessive nonsyndromic deafness 114	autosomal recessive deafness 114; DFNB114	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. [-]
amelogenesis imperfecta type 3	AI3; hypocalcified amelogenesis imperfecta	An amelogenesis imperfecta characterized by soft e..[+] An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. [-]
aminoglycoside-induced deafness	streptomycin ototoxicity; streptomycin-induced dea.. [+] streptomycin ototoxicity; streptomycin-induced deafness [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
Abruzzo-Erickson syndrome	CHARGE-like syndrome, X-linked; cleft palate-colob.. [+] CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
AMME complex	AMME syndrome; ATS-MR; Alport syndrome-intellectua.. [+] ATS-MR; AMME syndrome; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; chromosome Xq22.3 telomeric deletion syndrome [-]	A syndrome characterized by Alport syndrome, menta..[+] A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. [-]
autosomal recessive congenital bilateral absence of vas deferens		A congenital bilateral absence of vas deferens tha..[+] A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. [-]
autosomal dominant thrombophilia due to protein C deficiency	autosomal dominant protein C deficiency; autosomal.. [+] autosomal dominant protein C deficiency; autosomal dominant PROC deficiency; THPH3 [-]	A thrombophilia characterized by reduced serum lev..[+] A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal recessive nonsyndromic deafness 116	DFNB116	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. [-]
autosomal dominant nonsyndromic deafness 75	DFNA75	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. [-]
autosomal dominant spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda that has_mate..[+] A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. [-]
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. [-]
autosomal recessive spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. [-]
alacrima, achalasia, and impaired intellectual development syndrome	alacrima, achalasia, and mental retardation syndro.. [+] alacrima, achalasia, and mental retardation syndrome; AAMR [-]	A congenital disorder of glycosylation characteriz..[+] A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. [-]
lymphatic system disease	Adenopathy; disease of lympoid system; disorder of.. [+] Adenopathy; disease of lympoid system; disorder of lymph node and lymphatics (disorder); disorder of lymphatic system; disorder of lymphoid system; Lymphangiopathy, NOS; Lymphatic disease; Lymphatic disorder; lymphatic disorder; lympoid system disease [-]	An immune system disease that is located_in the ly..[+] An immune system disease that is located_in the lymphatic system. [-]
gastrointestinal system disease	alimentary system disease; digestive system disord.. [+] alimentary system disease; digestive system disorder; Gastroenteropathy; gastrointestinal disease; gastrointestinal disorder; GIT disease [-]	A disease of anatomical entity that is located_in ..[+] A disease of anatomical entity that is located_in the gastrointestinal tract. [-]
lateral sclerosis	adult-onset primary lateral sclerosis; primary lat.. [+] adult-onset primary lateral sclerosis; primary lateral sclerosis [-]	A motor neuron disease characterized by painless b..[+] A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. [-]

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