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Disease	Synonyms	Description
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. [-]
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. [-]
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. [-]
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		A cystitis that is characterized by dysuria, hemat..[+] A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. [-]
hepatocellular adenoma		n_a
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. [-]
hypomyelinating leukoencephalopathy		An autosomal dominant cerebellar ataxia that is ch..[+] An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. [-]
hypersensitivity reaction disease		An immune system disease that has material basis i..[+] An immune system disease that has material basis in abnormal immune responses. [-]
Her2-receptor positive breast cancer		n_a
Her2-receptor negative breast cancer		n_a
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 that involves a def..[+] A histidine metabolism disease that involves 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	hypoparathyroidism with short stature, mental reta.. [+] hypoparathyroidism with short stature, mental retardation and seizures; HRD syndrome; Sanjad-Sakati syndrome [-]	An autosomal recessive disease characterized by pe..[+] An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. [-]
hereditary papulotranslucent acrokeratoderma		A keratosis of the hands and feet characterized b..[+] 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	n_a
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. [-]
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. [-]
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. [-]
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. [-]
hereditary motor and sensory neuropathy with agenesis of the corpus callosum	agenesis of the corpus callosum with peripheral ne.. [+] agenesis of the corpus callosum with peripheral neuropathy; Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome; peripheral neuropathy associated with agenesis of the corpus callosum [-]	A neuropathy that has_material_basis_in homozygous..[+] A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. [-]
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. [-]
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. [-]
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. [-]
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 autosomal dominant disease characterized by dist..[+] A autosomal dominant disease 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 T2 hyperintensit..[+] A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system. [-]
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; MitCHAP60 disease; mitochondrial HSP60 chape.. [+] HLD4; MitCHAP60 disease; mitochondrial HSP60 chaperonopathy; Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [-]	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. [-]
hypomyelinating leukodystrophy 5	hypomyelination-congenital cataract syndrome; HLD5.. [+] hypomyelination-congenital cataract syndrome; HLD5 [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. [-]
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism	hypomyelination-cerebellar atrophy-hypoplasia of t.. [+] hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; HLD7; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; dentoleukoencephalopathy; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]

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