Echinobase

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??? 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 ???pagination.result.next???

Disease	Synonyms	Description
autosomal recessive Alport syndrome		An Alport syndrome that has_material -basis_in hom..[+] An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q [-]
autosomal recessive Parkinson disease 14		A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. [-]
autosomal recessive Robinow syndrome	costovertebral segmentation defect-mesomelia syndr.. [+] costovertebral segmentation defect-mesomelia syndrome; COVESDEM syndrome; RRS; [-]	A Robinow syndrome characterized by autosomal rece..[+] A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. [-]
autosomal recessive cerebellar ataxia		A hereditary ataxia that has_material_basis_in aut..[+] A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. [-]
autosomal recessive chronic granulomatous disease 3	autosomal recessive chronic granulomatous disease .. [+] autosomal recessive chronic granulomatous disease cytochrome b-positive type III; autosomal recessive cytochrome b-positive CGD type III; CDG3; chronic granulomatous disease due to NCF4 deficiency; [-]	A chronic granulomatous disease characterized by t..[+] A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. [-]
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 recessive congenital ichthyosis	ARCI;	A skin disease that is characterized by autosomal ..[+] A skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. [-]
autosomal recessive congenital ichthyosis 1	ARCI1; bathing suit ichthyosis;	An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. [-]
autosomal recessive congenital ichthyosis 10	ARCI10;	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. [-]
autosomal recessive congenital ichthyosis 11	autosomal recessive ichthyosis with hypotrichosis;.. [+] autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-hypotrichosis syndrome; IFAH syndrome; IHS; [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. [-]
autosomal recessive congenital ichthyosis 13		An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. [-]
autosomal recessive congenital ichthyosis 2	ARCI2; BROCQ congenital ichthyosiform erythroderma.. [+] ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form; NCIE1; nonbullous congenital ichthyosiform erythroderma 1; [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. [-]
autosomal recessive congenital ichthyosis 3	ARCI3; lamellar ichthyosis 5;	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. [-]
autosomal recessive congenital ichthyosis 4A	ARCI4A; ichthyosis congenita IIB; ICR2B; lamellar .. [+] ARCI4A; ichthyosis congenita IIB; ICR2B; lamellar ichthyosis 2; [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 4B	ARCI4B; harlequin ichthyosis; harlequin type ichth.. [+] ARCI4B; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis; [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 5	ARCI5; autosomal recessive congenital nonlamellar .. [+] ARCI5; autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis; [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. [-]
autosomal recessive congenital ichthyosis 6	ARCI6;	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. [-]
autosomal recessive congenital ichthyosis 7	ARCI7;	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. [-]
autosomal recessive congenital ichthyosis 8	ARCI8; lamellar ichthyosis 4; late-onset lamellar .. [+] ARCI8; lamellar ichthyosis 4; late-onset lamellar ichthyosis; [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. [-]
autosomal recessive congenital ichthyosis 9	ARCI9;	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. [-]
autosomal recessive cutis laxa type I	autosomal recessive cutis laxa type 1;	A cutis laxa characterized by wrinkled, redundant ..[+] A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems. [-]
autosomal recessive cutis laxa type IA	ARCL1A;	An autosomal recessive cutis laxa type I that has_..[+] An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. [-]
autosomal recessive cutis laxa type IB	ARCL1B;	An autosomal recessive cutis laxa type I character..[+] An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. [-]
autosomal recessive cutis laxa type IC	ARCL1C; autosomal recessive cutis laxa type 1C;	A autosomal recessive cutis laxa type I that has_m..[+] A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. [-]
autosomal recessive cutis laxa type II classic type	ARCL2, classic type; ARCL2, Debre type;	A cutis laxa characterized by generalized skin wri..[+] A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. [-]
autosomal recessive cutis laxa type IIA	ARCL2A;	An autosomal recessive cutis laxa type II classic ..[+] An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. [-]
autosomal recessive cutis laxa type IIB	ARCL2, progeroid type; ARCL2B;	A cutis laxa characterized by progeroid features t..[+] A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. [-]
autosomal recessive cutis laxa type IIC		An autosomal recessive cutis laxa type II classic ..[+] An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. [-]
autosomal recessive cutis laxa type IID	ARCL2D;	An autosomal recessive cutis laxa type II classic ..[+] An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. [-]
autosomal recessive cutis laxa type III	cutis laxa-corneal clouding-intellectual disabilit.. [+] cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome; [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]
autosomal recessive cutis laxa type IIIA	ARCL3A; De Barsy syndrome A;	A autosomal recessive cutis laxa type III that has..[+] A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal recessive cutis laxa type IIIB	ARCL3B; De Barsy syndrome B;	An autosomal recessive cutis laxa type III that ha..[+] An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. [-]
autosomal recessive disease		An autosomal genetic disease that is characterized..[+] An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. [-]
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. [-]
autosomal recessive dyskeratosis congenita 1	DKCB1;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. [-]
autosomal recessive dyskeratosis congenita 2	DKCB2;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. [-]
autosomal recessive dyskeratosis congenita 3	DKCB3;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. [-]
autosomal recessive dyskeratosis congenita 4	DKCB4;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 5	DKCB5;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal recessive dyskeratosis congenita 6	DKCB6;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12. [-]
autosomal recessive early-onset Parkinson disease 15	pallidopyramidal syndrome; Parkinsonian-pyramidal .. [+] pallidopyramidal syndrome; Parkinsonian-pyramidal syndrome; [-]	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. [-]
autosomal recessive early-onset Parkinson disease 6	early-onset Parkinson disease 6;	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
autosomal recessive early-onset Parksinson disease 23		An early-onset Parkinson disease that has_material..[+] An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. [-]
autosomal recessive hypercholesterolemia	familial autosomal recessive hypercholesterolemia.. [+] familial autosomal recessive hypercholesterolemia; ARH; ARH1; ARH2; autosomal recessive hypercholesterolemia 1; autosomal recessive hypercholesterolemia 2; FHCB1; FHCB2; familial autosomal recessive hypercholesterolemia; [-]	A familial hypercholesterolemia that is characteri..[+] A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. [-]
autosomal recessive hypophosphatemic rickets		A rickets that has_material_basis_in autosomal rec..[+] A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. [-]
autosomal recessive intellectual developmental disorder 1		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. [-]
autosomal recessive intellectual developmental disorder 12		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. [-]
autosomal recessive intellectual developmental disorder 14		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 24		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. [-]
autosomal recessive intellectual developmental disorder 30		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. [-]

???pagination.result.page??? ???pagination.result.prev??? 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 ???pagination.result.next???