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Disease	Synonyms	Description	Articles	Phenotypes
autosomal dominant Parkinson disease 4	autosomal dominant Lewy body Parkinson disease 4;	A late onset Parkinson disease that has_material_b..[+] A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. [-]
autosomal dominant Parkinson disease 8		A Parkinson's disease that has_material_basis_in h..[+] A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12. [-]	1 articles
autosomal dominant Robinow syndrome 1	DRS1;	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. [-]	1 articles
autosomal dominant Robinow syndrome 2	DRS2;	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. [-]
autosomal dominant Robinow syndrome 3	DRS3;	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	autosomal dominant adult proximal spinal muscular .. [+] autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA; autosomal dominant late-onset spinal muscular atrophy, Finkel type; 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. [-]
autosomal dominant auditory neuropathy 1	AUNA1; NSDAN; nonsyndromic dominant auditory neuro.. [+] AUNA1; NSDAN; nonsyndromic dominant auditory neuropathy; [-]	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. [-]
autosomal dominant auditory neuropathy 3	AUNA3;	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. [-]
autosomal dominant beta thalassemia	inclusion body beta-thalassemia;	A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. [-]
autosomal dominant centronuclear myopathy	AD-CNM;	A centronuclear myopathy that has_material_basis_i..[+] A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. [-]
autosomal dominant cerebellar ataxia	spinocerebellar ataxia ;	A cerebellar ataxia that has_material_basis_in aut..[+] A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. [-]	1 articles
autosomal dominant cerebellar ataxia, deafness and narcolepsy		n_a
autosomal dominant chondrodysplasia punctata		n_a
autosomal dominant congenital deafness with onychodystrophy		A syndrome that is characterized by autosomal domi..[+] A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. [-]
autosomal dominant craniometaphyseal dysplasia		A craniometaphyseal dysplasia that has_material_ba..[+] A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. [-]
autosomal dominant cutis laxa	ADCL;	A cutis laxa characterized by autosomal dominant i..[+] A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. [-]
autosomal dominant cutis laxa 1	ADCL1;	An autosomal dominant cutis laxa that has_material..[+] An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. [-]
autosomal dominant cutis laxa 2	ADCL2;	An autosomal dominant cutis laxa that has_material..[+] An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. [-]
autosomal dominant cutis laxa 3	ADCL3;	An autosomal dominant cutis laxa characterized by ..[+] An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal dominant disease		An autosomal genetic disease that is characterized..[+] An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. [-]	143 articles	41 matches
autosomal dominant distal hereditary motor neuronopathy	autosomal dominant dHMN; autosomal dominant distal.. [+] autosomal dominant dHMN; autosomal dominant distal hereditary motor neuropathy; autosomal dominant distal spinal muscular atrophy; [-]	A spinal muscular atrophy that is characterized by..[+] A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. [-]
autosomal dominant distal hereditary motor neuronopathy 1	autosomal dominant distal juvenile spinal muscular.. [+] autosomal dominant distal juvenile spinal muscular atrophy type 1; dHMN1; distal hereditary motor neuropathy type I; HMN I; spinal Charcot-Marie-Tooth disease 1; distal hereditary motor neuronopathy type 1; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. [-]
autosomal dominant distal hereditary motor neuronopathy 10		An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. [-]
autosomal dominant distal hereditary motor neuronopathy 11		An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. [-]
autosomal dominant distal hereditary motor neuronopathy 12	distal hereditary motor neuronopathy type 5B; dist.. [+] distal hereditary motor neuronopathy type 5B; distal HMN VB; distal spinal muscular atrophy type VB; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. [-]
autosomal dominant distal hereditary motor neuronopathy 13		An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. [-]
autosomal dominant distal hereditary motor neuronopathy 14	DHMN7B; distal hereditary motor neuronopathy type .. [+] DHMN7B; distal hereditary motor neuronopathy type 7B; distal hereditary motor neuropathy type VIIB; distal spinal muscular atrophy with vocal cord paralysis type 7B; Harper-Young myopathy; HMN VIIB; HMN7B; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. [-]
autosomal dominant distal hereditary motor neuronopathy 2	HMN II; HMN2; distal hereditary motor neuropathy t.. [+] HMN II; HMN2; distal hereditary motor neuropathy type II; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy type 2; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuropathy type IIA; HMN IIA; HMN2A; spinal Charcot-Marie-Tooth disease IIA; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. [-]
autosomal dominant distal hereditary motor neuronopathy 3	distal hereditary motor neuropathy type IIB; HMN I.. [+] distal hereditary motor neuropathy type IIB; HMN IIB; HMN2B; distal hereditary motor neuronopathy type 2B; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. [-]
autosomal dominant distal hereditary motor neuronopathy 4	DHMN2C; distal hereditary motor neuronopathy type .. [+] DHMN2C; distal hereditary motor neuronopathy type 2C; distal hereditary motor neuropathy type IIC; HMN IIC; HMN2C; [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. [-]
autosomal dominant distal hereditary motor neuronopathy 5	DHMN5; distal hereditary motor neuropathy type V; .. [+] DHMN5; distal hereditary motor neuropathy type V; distal HMN V; distal spinal muscular atrophy type V; distal spinal muscular atrophy with upper limb predominance; DSMAV; HMN5; distal hereditary motor neuronopathy type 5; distal hereditary motor neuronopathy type 5A; distal HMN VA; distal spinal muscular atrophy type VA; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. [-]
autosomal dominant distal hereditary motor neuronopathy 6	distal hereditary motor neuronopathy type 2D; dist.. [+] distal hereditary motor neuronopathy type 2D; distal hereditary motor neuropathy type IID; distal spinal muscular atrophy with calf predominance; HMN IID; HMN2D; [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. [-]
autosomal dominant distal hereditary motor neuronopathy 7	dHMN7; DHMNVPy; distal spinal muscular atrophy wit.. [+] dHMN7; DHMNVPy; distal spinal muscular atrophy with vocal cord paralysis; DHMN7A; distal hereditary motor neuronopathy type 7; distal hereditary motor neuropathy type VIIA; distal spinal muscular atrophy with vocal cord paralysis type 7A; Harper-Young myopath; HMN VIIA; HMN7A; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. [-]
autosomal dominant distal hereditary motor neuronopathy 8	autosomal dominant benign distal spinal muscular a.. [+] autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; DHMN8; distal hereditary motor neuronopathy type 8; distal hereditary motor neuropathy type VIII; HMN8; [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. [-]
autosomal dominant distal hereditary motor neuronopathy 9	DHMN9; distal hereditary motor neuronopathy type 9.. [+] DHMN9; distal hereditary motor neuronopathy type 9; distal hereditary motor neuropathy type IX; HMN9; [-]	An autosomal domiant distal hereditary motor neuro..[+] An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. [-]
autosomal dominant dyskeratosis congenita 1	DKCA1; Dyskeratosis Congenita, Scoggins Type;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. [-]
autosomal dominant dyskeratosis congenita 2	DKCA2;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal dominant dyskeratosis congenita 3	DKCA3;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. [-]
autosomal dominant dyskeratosis congenita 4	DKCA4;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal dominant dyskeratosis congenita 6	DKCA6;	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. [-]
autosomal dominant dystrophic epidermolysis bullosa		An epidermolysis bullosa dystrophica that is chara..[+] An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. [-]
autosomal dominant familial periodic fever	familial hibernian fever; tumor necrosis factor re.. [+] familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; familial Hibernian fever; TNF receptor 1-associated periodic syndrome; FHF; FPF; hibernian fever; TNF receptor associated periodic syndrome; TRAPS; tumor necrosis factor receptor associated periodic syndrome; [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
autosomal dominant familial visceral neuropathy		An intestinal pseudo-obstruction that is inherited..[+] An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. [-]
autosomal dominant hyaline body myopathy	congenital myopathy 7A; MSMA; myopathy with lysis .. [+] congenital myopathy 7A; MSMA; myopathy with lysis of type I myofibrils; Myopathy, myosin storage, autosomal dominant; [-]	A hyaline body myopathy that has_material_basis_in..[+] A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. [-]
autosomal dominant hypocalcemia	HYPOC;	A metal metabolism disorder characterized by autos..[+] A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. [-]	1 articles
autosomal dominant hypocalcemia 1	HYPOC1;	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the CASR gene on chromosome 3q21. [-]
autosomal dominant hypocalcemia 2	HYPOC2;	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
autosomal dominant hypophosphatemic rickets		A rickets characterized by low levels of serum pho..[+] A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. [-]
autosomal dominant intellectual developmental disorder	autosomal dominant mental retardation; autosomal d.. [+] autosomal dominant mental retardation; autosomal dominant non-syndromic mental retardation; [-]	A intellectual disability characterized by an auto..[+] A intellectual disability characterized by an autosomal dominant inheritance pattern. [-]	4 articles	6 matches
autosomal dominant intellectual developmental disorder 1	autosomal dominant mental retardation 1; MRD1; aut.. [+] autosomal dominant mental retardation 1; MRD1; autosomal dominant non-syndromic intellectual disability 1; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. [-]

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