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Disease	Synonyms	Description	Articles	Phenotypes
von Hippel-Lindau disease	Hippel Lindau syndrome; von Hippel-Lindau syndrome.. [+] Hippel Lindau syndrome; von Hippel-Lindau syndrome; Von Hippel-Lindau syndrome (disorder); Von Hippel-Lindau syndrome (VHL); Von Hippel-Lindau syndrome [-]	n_a
estrogen excess	hyperestrogenism	An ovarian dysfunction that is characterized by a ..[+] An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. [-]
pemphigoid gestationis	herpes gestationis; Herpes gestationis unspecified.. [+] herpes gestationis; Herpes gestationis unspecified (disorder); Herpes gestationis NOS (disorder); Herpes gestationis (disorder); Herpes gestationis; Gestational herpes [-]	A pemphigoid that is characterized by erythematous..[+] A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. [-]
neuronal ceroid lipofuscinosis	hereditary ceroid lipofuscinosis	n_a	1 articles
Axenfeld-Rieger syndrome	Hagedoom syndrome; Anomaly, Rieger's; RGS - Rieger.. [+] Hagedoom syndrome; Anomaly, Rieger's; RGS - Rieger syndrome; Rieger's anomaly; Axenfeld syndrome [-]	An eye disease characterized by abnormalities of t..[+] An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]	3 articles
Clouston syndrome	Hidrotic ectodermal dysplasia syndrome; hidrotic e.. [+] Hidrotic ectodermal dysplasia syndrome; hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome (disorder); Clouston's hidrotic ectodermal dysplasia; Clouston's syndrome; ectodermal dysplasia 2, Clouston type [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. [-]
renal agenesis	hereditary urogenital adysplasia; hereditary renal.. [+] hereditary urogenital adysplasia; hereditary renal aplasia; renal adysplasia; renal aplasia [-]	A renal disease that is characterized by the failu..[+] A renal disease that is characterized by the failure of one or both kidneys to develop. [-]	1 articles
polycystic echinococcosis	human polycystic hydatid disease; neotropical echi.. [+] human polycystic hydatid disease; neotropical echinococcosis [-]	An echinococcosis that is caused by the larvae of ..[+] An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. [-]
X-linked dominant hypophosphatemic rickets	hypophosphatemic rickets X-linked dominant; Hypoph.. [+] hypophosphatemic rickets X-linked dominant; Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]	1 articles
white sponge nevus	hereditary mucosal leukokeratosis; white sponge ne.. [+] hereditary mucosal leukokeratosis; white sponge nevus of Cannon; white sponge nevus [-]	A skin disease characterized by a defect in the no..[+] A skin disease characterized by a defect in the normal process of keratinization of the mucosa. [-]
Gitelman syndrome	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W.. [+] HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA [-]	A renal tubular transport disease that is has_mate..[+] A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). [-]	5 articles
nonphotosensitive trichothiodystrophy 4	HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYND.. [+] HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; BIDS syndrome; TTD4 [-]	A syndrome that is characterized by brittle hair, ..[+] A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. [-]
Charcot-Marie-Tooth disease type 1	hereditary motor and sensory neuropathy type 1	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [-]	1 articles
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy Okinawa ty.. [+] hereditary motor and sensory neuropathy Okinawa type; hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy Guadalajara neuronal type [-]	A Charcot-Marie-Tooth disease characterized by abn..[+] A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [-]	1 articles
Charcot-Marie-Tooth disease type 4	hereditary motor and sensory neuropathy	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [-]
visceral heterotaxy	heterotaxia; situs ambiguus	A physical disorder characterized by the abnormal ..[+] A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. [-]	34 articles	121 matches
Walker-Warburg syndrome	HARD syndrome; cerebroocular dysplasia-muscular dy.. [+] HARD syndrome; cerebroocular dysplasia-muscular dystrophy syndrome [-]	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. [-]
Seckel syndrome	Harper's syndrome; microcephalic primordial dwarfi.. [+] Harper's syndrome; microcephalic primordial dwarfism; bird-headed dwarfism; Virchow-Seckel dwarfism [-]	A syndrome characterized by intrauterine growth re..[+] A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]	2 articles
tooth agenesis	hypodontia; oligodontia; selective tooth agenesis; .. [+] hypodontia; oligodontia; selective tooth agenesis; familial tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop one or more missing teeth. [-]	1 articles
acheiropody	Horn-Kolb Syndrome; Acheiropodia	An osteochondrodysplasia characterized by a lack o..[+] An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. [-]
acrokeratosis verruciformis	Hopf disease; Acrokeratosis verruciformis of Hopf; .. [+] Hopf disease; Acrokeratosis verruciformis of Hopf [-]	n_a
Bamforth-Lazarus syndrome	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL.. [+] HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE [-]	n_a
ataxic cerebral palsy	hypotonic cerebral palsy	A cerebral palsy that is caused by damage to the c..[+] A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. [-]
ornithine translocase deficiency	Hyperornithinemia-Hyperammonemia-Homocitrullinuria.. [+] Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome; HHH syndrome [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. [-]
tyrosinemia type I	hepatorenal tyrosinemia	A tyrosinemia that has_material_basis_in deficienc..[+] A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. [-]
vitamin B12 deficiency	hypocobalaminemia; cobalamin deficiency	A vitamin metabolic disorder that results from low..[+] A vitamin metabolic disorder that results from low blood levels of vitamin B12. [-]
congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency	A vitamin B12 deficiency that is characterized by ..[+] A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [-]
spondyloepiphyseal dysplasia with congenital joint dislocations	humero-spinal dysostosis; humerospinal dysostosis; .. [+] humerospinal dysostosis; humero-spinal dysostosis; Humerospinal dysostosis; Humerospinal Dysostosis; Humero-spinal dysostosis with congenital heart disease; CHST3-Related Skeletal Dysplasia; Kozlowski Celermajer Tink syndrome; Omani Type; Spondyloepiphyseal Dysplasia; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS [-]	A spondyloepiphyseal dysplasia that is characteriz..[+] A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [-]
urofacial syndrome	hydronephrosis with peculiar facial expression; Oc.. [+] hydronephrosis with peculiar facial expression; Ochoa syndrome [-]	A syndrome that is characterized by inverted facia..[+] A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. [-]	1 articles
Troyer syndrome	hereditary spastic paraplegia 20; autosomal recess.. [+] hereditary spastic paraplegia 20; autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; spastic paraplegia 20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
MHC class I deficiency	HLA CLASS I DEFICIENCY; bare lymphocyte syndrome t.. [+] HLA CLASS I DEFICIENCY; bare lymphocyte syndrome type I; BLS, TYPE I; BLSI [-]	n_a
CD40 ligand deficiency	HIGMX-1; X-linked hyper-IgM syndrome	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
immunodeficiency with hyper IgM type 3	hyper-IgM syndrome due to CD40 deficiency; immunod.. [+] hyper-IgM syndrome due to CD40 deficiency; immunodeficiency with hyper-IgM type 3; type 3 hyper-IgM immunodeficiency; CD40 deficiency [-]	A hyper IgM syndrome that has_material_basis_in mu..[+] A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. [-]
dentatorubral-pallidoluysian atrophy	Haw River Syndrome; DRPLA; Naito-Oyanagi disease	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. [-]
xanthinuria	hereditary xanthinuria; xanthine oxidase deficienc.. [+] hereditary xanthinuria; xanthine oxidase deficiency; xanthine dehydrogenase deficiency; classic xanthinuria [-]	A purine-pyrimidine metabolic disorder characteriz..[+] A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. [-]
Mast syndrome	hereditary spastic paraplegia 21; autosomal recess.. [+] hereditary spastic paraplegia 21; autosomal recessive spastic paraplegia 21; SPG21; autosomal recessive spastic paraplegia type 21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
MASA syndrome	hereditary spastic paraplegia 1; L1 syndrome; SPG1.. [+] hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked spastic paraplegia 1; Gareis-Mason syndrome; X-linked corpus callosum agenesis; CRASH syndrome [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
parietal foramina	hereditary cranium bifidum; Caitlin marks; enlarge.. [+] hereditary cranium bifidum; Caitlin marks; enlarged parietal foramina [-]	An inherited neural tube defect that is characteri..[+] An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. [-]
oral hairy leukoplakia	hairy leukoplakia	A mouth disease characterized by a white patch on ..[+] A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. [-]
agnathia-otocephaly complex	holoprosencephaly-agnathia; dysgnathia complex agn.. [+] holoprosencephaly-agnathia; dysgnathia complex agnathia-holoprosencephaly; otocephaly; agnathia-holoprosencephaly-situs inversus syndrome [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
acrodermatitis chronica atrophicans	Herxheimer disease; primary diffuse atrophy	An acrodermatitis characterized by a chronically p..[+] An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [-]
lysinuric protein intolerance	hyperdibasic aminoaciduria; LPI; dibasic amino aci.. [+] hyperdibasic aminoaciduria; LPI; dibasic amino aciduria II [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [-]
Schnyder corneal dystrophy	hereditary crystalline stromal dystrophy of Schnyd.. [+] hereditary crystalline stromal dystrophy of Schnyder; corneal dystrophy crystalline of Schnyder; crystalline stromal dystrophy; Schnyder crystalline corneal dystrophy; SCCD [-]	A stromal dystrophy that is characterized by abnor..[+] A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. [-]
posterior polymorphous corneal dystrophy	hereditary polymorphus posterior corneal dystrophy.. [+] hereditary polymorphus posterior corneal dystrophy; Schlichting dystrophy; PPCD [-]	A corneal dystrophy that is characterized by chang..[+] A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. [-]
gingival fibromatosis	hereditary gingival hyperplasia; hereditary gingiv.. [+] hereditary gingival hyperplasia; hereditary gingival fibromatosis [-]	A gingival overgrowth characterized by benign, slo..[+] A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. [-]
Kindler syndrome	hereditary acrokeratotic poikiloderma of Kindler-W.. [+] hereditary acrokeratotic poikiloderma of Kindler-Weary; poikiloderma of Kindler [-]	A skin disease characterized by congenital blister..[+] A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [-]
Mowat-Wilson syndrome	Hirschsprung disease mental retardation syndrome; .. [+] Hirschsprung disease mental retardation syndrome; microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease [-]	A syndrome characterized by distinctive facial fea..[+] A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [-]
familial hypocalciuric hypercalcemia 1	HHC1; hypocalciuric hypercalcemia type I; familial.. [+] hypocalciuric hypercalcemia type I; HHC1; familial hypocalciuric hypercalcemia type I; FHH type 1; familial benign hypercalcemia 1 [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. [-]
familial hypocalciuric hypercalcemia 2	HHC2; hypocalciuric hypercalcemia type II; FHH typ.. [+] hypocalciuric hypercalcemia type II; HHC2; FHH type 2; familial hypocalciuric hypercalcemia type 2 [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
familial hypocalciuric hypercalcemia 3	HHC3; hypocalciuric hypercalcemia type III; famili.. [+] hypocalciuric hypercalcemia type III; HHC3; familial hypocalciuric hypercalcemia type 3; FHH type 3 [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. [-]

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