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Disease	Synonyms	Description	Articles	Phenotypes
hypophosphatemia		n_a	3 articles
Hailey-Hailey disease	Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIG.. [+] Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIGUS [-]	A pemphigus that is characterized by recurring bli..[+] A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. [-]
hyperphosphatemia		A phosphorus metabolism disease characterized by h..[+] A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. [-]
hypermethioninemia		An amino acid metabolic disorder that involves an ..[+] An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. [-]
hereditary sensory neuropathy	hereditary sensory and autonomic neuropathy; conge.. [+] hereditary sensory and autonomic neuropathy; congenital insensitivity to pain; familial dysautonomia, type II [-]	A neuropathy characterized by congenital insensiti..[+] A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [-]	2 articles
hereditary lymphedema	Milroy's disease; Nonne-Milroy lymphedema	A lymphedema commonly located_in legs, caused_by c..[+] A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. [-]	1 articles
hypochromic microcytic anemia		A microcytic anemia characterized by paler than no..[+] A microcytic anemia characterized by paler than normal blood cells. [-]
hydrolethalus syndrome	Salonen-Herva-Norio syndrome	A syndrome characterized by mulitple fetal develop..[+] A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. [-]	2 articles
hemidystonia		A multifocal dystonia that involves the arm and le..[+] A multifocal dystonia that involves the arm and leg on the same side of the body. [-]
hemorrhagic cystitis		n_a
hepatocellular adenoma		A liver benign neoplasm that is located_in liver c..[+] A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. [-]
hereditary hypophosphatemic rickets with hypercalciuria		A rickets that has_material_basis_in increased ser..[+] A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. [-]
hereditary ataxia		A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. [-]	18 articles
hypomyelinating leukoencephalopathy		n_a
hypersensitivity reaction disease		An immune system disease that has material basis i..[+] An immune system disease that has material basis in abnormal immune responses. [-]	28 articles	13 matches
Her2-receptor positive breast cancer		n_a
Her2-receptor negative breast cancer		A breast cancer that is characterized by the absen..[+] A breast cancer that is characterized by the absence of Her2 receptors. [-]
heavy chain disease		A hypersensitivity reaction type IV disease that r..[+] A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. [-]
histidinemia	histidinuria	A histidine metabolism disease characterized by a ..[+] A histidine metabolism disease characterized by a deficiency of the enzyme histidase. [-]
homocarnosinosis		A gamma-amino butyric acid metabolism disorder tha..[+] A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. [-]
hypoparathyroidism-retardation-dysmorphism syndrome	HRD syndrome; hypoparathyroidism with short statur.. [+] HRD syndrome; hypoparathyroidism with short stature, mental retardation and seizures; Sanjad-Sakati syndrome [-]	A syndrome characterized by permanent parathyroid ..[+] A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. [-]
hereditary papulotranslucent acrokeratoderma		A keratosis of the hands and feet characterized by..[+] A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. [-]
Hennekam syndrome	Hennekam lymphangiectasia-lymphedema syndrome; lym.. [+] Hennekam lymphangiectasia-lymphedema syndrome; lymphedem-lymphangiectasia-intellectual disability syndrome [-]	A lymphatic system disease characterized by he pre..[+] A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. [-]
humeroradial synostosis	humero-radial fusion	A synostosis that is characterized by uni- or bila..[+] A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. [-]
Holt-Oram syndrome	heart-hand syndrome; atrio-digital syndrome; atrio.. [+] heart-hand syndrome; atrio-digital syndrome; atriodigital dysplasia [-]	A syndrome characterized by congenital anomalies l..[+] A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. [-]	6 articles
horned turban snail allergy	Turbo cornutus allergy	A snail allergy triggered by the horned turban sna..[+] A snail allergy triggered by the horned turban snail. [-]
hepatoid adenocarcinoma		An adenocarcinoma with morphologic characteristics..[+] An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. [-]
Hermansky-Pudlak syndrome 1		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. [-]
Hermansky-Pudlak syndrome 2		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. [-]
Hermansky-Pudlak syndrome 3		A Hermasky-Pudlak syndrome that has_material_basis..[+] A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. [-]
Hermansky-Pudlak syndrome 4		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. [-]	1 articles
Hermansky-Pudlak syndrome 5		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. [-]
Hermansky-Pudlak syndrome 6		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. [-]	2 articles
Hermansky-Pudlak syndrome 7		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. [-]
Hermansky-Pudlak syndrome 8		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. [-]
Hermansky-Pudlak syndrome 9		A Hermansky-Pudlak syndrome that has_material_basi..[+] A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. [-]
Holzgreve-Wagner-Rehder Syndrome	Holzgreve Wagner Rehder Syndrome; Holzgreve syndro.. [+] Holzgreve Wagner Rehder Syndrome; Holzgreve syndrome [-]	A syndrome characterized by Potter sequence, heart..[+] A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. [-]
hypertrichotic osteochondrodysplasia Cantu type	Cantu syndrome	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. [-]
hyperekplexia	hereditary hyperekplexia; congenital stiff man syn.. [+] hereditary hyperekplexia; congenital stiff man syndrome; familial startle disease; Kok disease; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]	6 articles
hyperekplexia 1	HKPX1	A hyperekplexia that has_material_basis_in heteroz..[+] A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. [-]	1 articles
hyperekplexia 2	HKPX2	A hyperekplexia that has_material_basis_in compoun..[+] A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. [-]	1 articles
hyperekplexia 3	HKPX3	A hyperekplexia that has_material_basis_in homozyg..[+] A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. [-]
hand-foot-genital syndrome	HFGS; hand-foot-uterus syndrome	A syndrome characterized by distal limb defects (s..[+] A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. [-]
hypomyelinating leukodystrophy	HLD	A leukodystrophy characterized by improper formati..[+] A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. [-]
hypomyelinating leukodystrophy 2	HLD2; Pelizaeus-Merzbacher-like disease 1; Pelizae.. [+] HLD2; Pelizaeus-Merzbacher-like disease 1; Pelizaeus-Merzbacher-like disease due to GJC2 mutation; PMLD1 [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. [-]
hypomyelinating leukodystrophy 10	HLD10	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. [-]
hypomyelinating leukodystrophy 4	HLD4; mitochondrial HSP60 chaperonopathy; Pelizaeu.. [+] HLD4; mitochondrial HSP60 chaperonopathy; Pelizaeus-Merzbacher-like disease due to HSPD1 mutation; MitCHAP60 disease [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. [-]
hypomyelinating leukodystrophy 3	HLD3; Pelizaeus-Merzbacher-like disease due to AIM.. [+] HLD3; Pelizaeus-Merzbacher-like disease due to AIMP1 mutation [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. [-]
hypomyelinating leukodystrophy 9	HLD9; RARS-related autosomal recessive hypomyelina.. [+] HLD9; RARS-related autosomal recessive hypomyelinating leukodystrophy [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. [-]
hypomyelinating leukodystrophy 11	HLD11	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. [-]

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