Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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adhesions of uterus |
Band of uterus; Intrauterine adhesions; Intrauteri..
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A uterine disease that is characterized by the pre..[+]
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somatization disorder |
Briquet's disorder; Polysomatising disorder; Somat..
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A somatoform disorder that involves persistently c..[+]
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lacrimal duct obstruction |
Blocked lacrimal canaliculus; Obstruction of lacri..
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n_a
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Masters-Allen syndrome |
Broad ligament laceration syndrome
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A female reproductive system disease that is chara..[+]
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labyrinthine bilateral reactive loss |
Bilateral loss of labyrinthine reactivity (disorde..
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n_a
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steroid-induced glaucoma - borderline |
Borderline glaucoma steroid responder; Steroid res..
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n_a
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hypertelorism, microtia, facial clefting syndrome |
An autosomal recessive disease that is characteriz..[+]
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Rocky Mountain spotted fever |
Brazillian spotted; So Paulo fever; Choix; Exanthe..
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A spotted fever that has_material_basis_in Rickett..[+]
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cryptogenic organizing pneumonia |
An idiopathic interstitial pneumonia characterized..[+]
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Hailey-Hailey disease |
BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Famili..
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A pemphigus that is characterized by recurring bli..[+]
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nonphotosensitive trichothiodystrophy 4 |
A syndrome that is characterized by brittle hair, ..[+]
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Seckel syndrome |
bird-headed dwarfism; Harper's syndrome; microceph..
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An autosomal recessive disease characterized by in..[+]
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congenital disorder of glycosylation type II |
B4GALT1-CDG (CDG-2d); MGAT2-CDG (CDG-2a); MOGS-CDG..
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A congenital disorder of glycosylation that involv..[+]
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congenital generalized lipodystrophy |
Beradinelli-Seip syndrome
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n_a
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taeniasis |
Beef tapeworm infection; Infection by Taeniarhynch..
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A parasitic helminthiasis infectious disease that ..[+]
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pseudo-TORCH syndrome 1 |
band-like calcification with simplified gyration a..
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An autosomal recessive disease that is characteriz..[+]
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vitelliform macular dystrophy |
A macular degeneration that it is characterized by..[+]
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3-methylcrotonyl-CoA carboxylase deficiency |
BMCC deficiency; 3-Methylcrotonylglycinuria; 3MCC ..
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An amino acid metabolic disorder that is classifie..[+]
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pulmonary adenocarcinoma in situ |
bronchioalveolar carcinoma
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A lung carcinoma in situ that derives_from the dis..[+]
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medulloblastoma |
brain medulloblastoma; CNS PNET; CPNET; infratento..
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An infratentorial cancer that is located_in the lo..[+]
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MHC class I deficiency |
A severe combined immunodeficiency that is charact..[+]
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agammaglobulinemia 4 |
An agammaglobulinemia that has_material_basis_in a..[+]
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Simpson-Golabi-Behmel syndrome type 1 |
bulldog syndrome; DGSX Golabi-Rosen syndrome; Gola..
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A syndrome characterized by pre- and postnatal ove..[+]
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ptosis |
blepharoptosis; drooping eyelid
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An eye disease characterized by the drooping or fa..[+]
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Native American myopathy |
Bailey-Bloch congenital myopathy; congenital myopa..
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A congenital myopathy that is characterized by con..[+]
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orofaciodigital syndrome IV |
Baraitser-Burn syndrome; OFD4
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An orofaciodigital syndrome that is characterized ..[+]
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chondrodysplasia Blomstrand type |
Blomstrand lethal chondrodysplasia
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n_a
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Lisch epithelial corneal dystrophy |
band-shaped and whorled microcystic; LECD
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n_a
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cow milk allergy |
Bos taurus milk allergy
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A milk allergy triggered by Bos taurus milk.
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luminal breast carcinoma A |
breast tumor luminal; luminal breast cancer; Lumin..
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A breast carcinoma that is characterized by high e..[+]
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anomalous left coronary artery from the pulmonary artery |
Bland-White-Garland syndrome; ALCAPA; White-Garlan..
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A coronary artery anomaly in which the left corona..[+]
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microcephalic osteodysplastic primordial dwarfism type I |
brachymelic primordial dwarfism; cephaloskeletal d..
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A microcephalic osteodysplastic primordial dwarfis..[+]
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megacystis-microcolon-intestinal hypoperistalsis syndrome |
Berdon syndrome; visceral myopathy
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A syndrome that is characterized by marked dilatat..[+]
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autosomal recessive congenital ichthyosis 1 |
bathing suit ichthyosis; ARCI1
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An autosomal recessive congenital ichthyosis that ..[+]
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autosomal recessive congenital ichthyosis 2 |
BROCQ congenital ichthyosiform erythroderma nonbul..
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An autosomal recessive congenital ichthyosis chara..[+]
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patterned macular dystrophy 2 |
butterfly-shaped pigmentary maculary dystrophy 2; ..
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A patterned macular dystrophy characterized by bil..[+]
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patterned macular dystrophy 1 |
butterfly-shaped pigmentary maculary dystrophy 1; ..
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A patterned macular dystrophy characterized by bil..[+]
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ichthyosis bullosa of Siemens |
bullous type ichthyosis; superficial epidermolytic..
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An ichthyosis characterized by autosomal dominant ..[+]
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hypoparathyroidism-deafness-renal disease syndrome |
Barakat syndrome; HDR syndrome; hypoparathyroidism..
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A characterized by autosomal dominant inheritance ..[+]
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renal hypomagnesemia 5 with ocular involvement |
bilateral macular coloboma with hypercalciuria; fa..
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A hypomagnesemia characterized by autosomal recess..[+]
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multiple epiphyseal dysplasia 5 |
A multiple epiphyseal dysplasia that has_material_..[+]
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primary biliary cholangitis 2 |
BILIARY CIRRHOSIS, PRIMARY, 2; PBC2
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A primary biliary cholangitis that has_material_ba..[+]
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primary biliary cholangitis 3 |
BILIARY CIRRHOSIS, PRIMARY, 3; PBC3
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A primary biliary cholangitis that has_material_ba..[+]
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metaphyseal dysplasia |
Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s..
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An osteochondrodysplasia that results_in thinning ..[+]
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Worth's syndrome |
benign form of Worth hyperostosis corticalis gener..
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A hyperostosis that has_material_basis_in a mutati..[+]
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fibrogenesis imperfecta ossium |
Baker's disease
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A syndrome that involves abnormality of collagen s..[+]
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myofibrillar myopathy 6 |
BAG3-related myofibrillar myopathy
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A myofibrillar myopathy that has_material_basis_in..[+]
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multiple mitochondrial dysfunctions syndrome 2 |
BOLA3 deficiency; multiple mitochondrial dysfuncti..
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A multiple mitochondrial dysfunctions syndrome tha..[+]
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hot water epilepsy |
bathing epilepsy; water immersion epilepsy
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A reflex epilepsy that is characterized by seizure..[+]
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Schwartz-Jampel syndrome 1 |
An autosomal recessive disease characterized by ne..[+]
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