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??? 4 5 6 7 8 9 10 11 12 13 14 15 ???pagination.result.next???

Disease	Synonyms	Description
adhesions of uterus	Band of uterus; Intrauterine adhesions; Intrauteri.. [+] Band of uterus; Intrauterine adhesions; Intrauterine synechiae [-]	A uterine disease that is characterized by the pre..[+] A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. [-]
somatization disorder	Briquet's disorder; Polysomatising disorder; Somat.. [+] Briquet's disorder; Polysomatising disorder; Somatisation disorder [-]	A somatoform disorder that involves persistently c..[+] A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. [-]
lacrimal duct obstruction	Blocked lacrimal canaliculus; Obstruction of lacri.. [+] Blocked lacrimal canaliculus; Obstruction of lacrimal canaliculus; Obstruction of lacrimal ducts [-]	n_a
Masters-Allen syndrome	Broad ligament laceration syndrome	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. [-]
labyrinthine bilateral reactive loss	Bilateral loss of labyrinthine reactivity (disorde.. [+] Bilateral loss of labyrinthine reactivity (disorder); Labyrinthine bilateral reactive loss (disorder); Loss of labyrinthine reactivity, bilateral [-]	n_a
steroid-induced glaucoma - borderline	Borderline glaucoma steroid responder; Steroid res.. [+] Borderline glaucoma steroid responder; Steroid responders borderline glaucoma [-]	n_a
hypertelorism, microtia, facial clefting syndrome	Bixler syndrome; Bixler-Christian-Gorlin syndrome; .. [+] Bixler-Christian-Gorlin syndrome; Bixler syndrome; Bixler Christian Gorlin syndrome; HMC syndrome; Hypertelorism-Microtia-Clefting Syndrome; Hypertelorism-microtia-facial clefting syndrome [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. [-]
Rocky Mountain spotted fever	Brazillian spotted; So Paulo fever; Choix; Exanthe.. [+] Brazillian spotted; So Paulo fever; Choix; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; Tick typhus; Tobia fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. [-]
cryptogenic organizing pneumonia	bronchiolitis obliterans organising pneumonia; bro.. [+] bronchiolitis obliterans organising pneumonia; bronchiolitis obliterans organizing pneumonia; BOOP; Cryptogenic organizing pneumonitis; idiopathic bronchiolitis obliterans with organizing pneumonia; cryptogenic organising pneumonia; Cryptogenic organising pneumonitis; idiopathic bronchiolitis obliterans with organising pneumonia [-]	An idiopathic interstitial pneumonia characterized..[+] An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. [-]
Hailey-Hailey disease	BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Famili.. [+] BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Familial [-]	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. [-]
nonphotosensitive trichothiodystrophy 4	BIDS SYNDROME; BIDS syndrome; AMISH BRITTLE HAIR B.. [+] BIDS syndrome; BIDS SYNDROME; AMISH BRITTLE HAIR BRAIN SYNDROME; HAIR-BRAIN 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. [-]
Seckel syndrome	bird-headed dwarfism; Harper's syndrome; microceph.. [+] bird-headed dwarfism; Harper's syndrome; microcephalic primordial dwarfism; Virchow-Seckel dwarfism [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]
congenital disorder of glycosylation type II	B4GALT1-CDG (CDG-2d); MGAT2-CDG (CDG-2a); MOGS-CDG.. [+] B4GALT1-CDG (CDG-2d); MGAT2-CDG (CDG-2a); MOGS-CDG (CDG-2b) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [-]
congenital generalized lipodystrophy	Beradinelli-Seip syndrome	n_a
taeniasis	Beef tapeworm infection; Infection by Taeniarhynch.. [+] Beef tapeworm infection; Infection by Taeniarhynchus saginatus; Taenia saginata infectious disease [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. [-]
pseudo-TORCH syndrome 1	band-like calcification with simplified gyration a.. [+] band-like calcification with simplified gyration and polymicrogyria [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria. [-]
vitelliform macular dystrophy	Best disease; Best macular dystrophy; juvenile-ons.. [+] Best macular dystrophy; Best disease; juvenile-onset vitelliform macular dystrophy [-]	A macular degeneration that it is characterized by..[+] A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. [-]
3-methylcrotonyl-CoA carboxylase deficiency	BMCC deficiency; 3-Methylcrotonylglycinuria; 3MCC .. [+] BMCC deficiency; 3-Methylcrotonylglycinuria; 3MCC deficiency [-]	An amino acid metabolic disorder that is classifie..[+] An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. [-]
pulmonary adenocarcinoma in situ	bronchioalveolar carcinoma	A lung carcinoma in situ that derives_from the dis..[+] A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. [-]
medulloblastoma	brain medulloblastoma; CNS PNET; CPNET; infratento.. [+] brain medulloblastoma; CNS PNET; CPNET; infratentorial primitive neuroectodermal tumor; localized primitive neuroectodermal tumor; Medulloblastoma, histologically defined [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]
MHC class I deficiency	BLS, TYPE I; BLSI; bare lymphocyte syndrome type I.. [+] BLSI; BLS, TYPE I; bare lymphocyte syndrome type I; HLA CLASS I DEFICIENCY [-]	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. [-]
agammaglobulinemia 4	BLNK deficiency; B cell linker protein deficiency; .. [+] B cell linker protein deficiency; BLNK deficiency; B-cell linker protein deficiency [-]	An agammaglobulinemia that has_material_basis_in a..[+] An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. [-]
Simpson-Golabi-Behmel syndrome type 1	bulldog syndrome; DGSX Golabi-Rosen syndrome; Gola.. [+] bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
ptosis	blepharoptosis; drooping eyelid	An eye disease characterized by the drooping or fa..[+] An eye disease characterized by the drooping or falling of the upper or lower eyelid. [-]
Native American myopathy	Bailey-Bloch congenital myopathy; congenital myopa.. [+] Bailey-Bloch congenital myopathy; congenital myopathy 13 [-]	A congenital myopathy that is characterized by con..[+] A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. [-]
orofaciodigital syndrome IV	Baraitser-Burn syndrome; OFD4	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. [-]
chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia	n_a
Lisch epithelial corneal dystrophy	band-shaped and whorled microcystic; LECD	n_a
cow milk allergy	Bos taurus milk allergy	A milk allergy triggered by Bos taurus milk.
luminal breast carcinoma A	breast tumor luminal; luminal breast cancer; Lumin.. [+] breast tumor luminal; luminal breast cancer; Luminal A Breast Carcinoma [-]	A breast carcinoma that is characterized by high e..[+] A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. [-]
anomalous left coronary artery from the pulmonary artery	Bland-White-Garland syndrome; ALCAPA; White-Garlan.. [+] Bland-White-Garland syndrome; ALCAPA; White-Garland syndrome [-]	A coronary artery anomaly in which the left corona..[+] A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. [-]
microcephalic osteodysplastic primordial dwarfism type I	brachymelic primordial dwarfism; cephaloskeletal d.. [+] brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. [-]
megacystis-microcolon-intestinal hypoperistalsis syndrome	Berdon syndrome; visceral myopathy	A syndrome that is characterized by marked dilatat..[+] A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. [-]
autosomal recessive congenital ichthyosis 1	bathing suit ichthyosis; ARCI1	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 2	BROCQ congenital ichthyosiform erythroderma nonbul.. [+] BROCQ congenital ichthyosiform erythroderma nonbullous form; ARCI2; 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. [-]
patterned macular dystrophy 2	butterfly-shaped pigmentary maculary dystrophy 2; .. [+] butterfly-shaped pigmentary maculary dystrophy 2; MDPT2 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. [-]
patterned macular dystrophy 1	butterfly-shaped pigmentary maculary dystrophy 1; .. [+] butterfly-shaped pigmentary maculary dystrophy 1; MDPT1 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. [-]
ichthyosis bullosa of Siemens	bullous type ichthyosis; superficial epidermolytic.. [+] bullous type ichthyosis; superficial epidermolytic ichthyosis [-]	An ichthyosis characterized by autosomal dominant ..[+] An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
hypoparathyroidism-deafness-renal disease syndrome	Barakat syndrome; HDR syndrome; hypoparathyroidism.. [+] Barakat syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease [-]	A characterized by autosomal dominant inheritance ..[+] A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. [-]
renal hypomagnesemia 5 with ocular involvement	bilateral macular coloboma with hypercalciuria; fa.. [+] bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
multiple epiphyseal dysplasia 5	bilateral hereditary microepiphyseal dysplasia; BH.. [+] bilateral hereditary microepiphyseal dysplasia; BHMED; EDM5; multiple epiphyseal dysplasia MATN3-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
primary biliary cholangitis 2	BILIARY CIRRHOSIS, PRIMARY, 2; PBC2	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. [-]
primary biliary cholangitis 3	BILIARY CIRRHOSIS, PRIMARY, 3; PBC3	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. [-]
metaphyseal dysplasia	Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s.. [+] Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn syndrome [-]	An osteochondrodysplasia that results_in thinning ..[+] An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. [-]
Worth's syndrome	benign form of Worth hyperostosis corticalis gener.. [+] benign form of Worth hyperostosis corticalis generalisata with torus platinus; autosomal dominant endosteal hyperostosis; autosomal dominant osteosclerosis; Worth syndrome [-]	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. [-]
fibrogenesis imperfecta ossium	Baker's disease	A syndrome that involves abnormality of collagen s..[+] A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. [-]
myofibrillar myopathy 6	BAG3-related myofibrillar myopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. [-]
multiple mitochondrial dysfunctions syndrome 2	BOLA3 deficiency; multiple mitochondrial dysfuncti.. [+] BOLA3 deficiency; multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia [-]	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. [-]
hot water epilepsy	bathing epilepsy; water immersion epilepsy	A reflex epilepsy that is characterized by seizure..[+] A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. [-]
Schwartz-Jampel syndrome 1	Burton skeletal dysplasia; Burton syndrome; Aberfe.. [+] Burton syndrome; Burton skeletal dysplasia; Aberfeld syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome [-]	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]

???pagination.result.page??? ???pagination.result.prev??? 4 5 6 7 8 9 10 11 12 13 14 15 ???pagination.result.next???