Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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hypermobility syndrome |
benign joint hypermobility; hypermobility syndrome..
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n_a
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myringitis bullosa hemorrhagica |
Bullous myringitis
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A tympanic membrane disease that is characterized ..[+]
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adhesions of uterus |
Band of uterus; Intrauterine synechiae; 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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X-linked agammaglobulinemia |
An agammaglobulinemia that is that has_material_ba..[+]
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labyrinthine bilateral reactive loss |
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 |
A syndrome that is characterized by the combinatio..[+]
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co-trimoxazole allergy |
Bactrim allergy; cotrimoxazol allergy; TMP/SMX all..
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A drug allergy that has_allergic_trigger co-trimox..[+]
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Rocky Mountain spotted fever |
Brazillian spotted; Choix; Exanthematic typhus of ..
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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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A syndrome characterized by intrauterine growth re..[+]
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2 articles | |
congenital disorder of glycosylation type II |
B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-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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A lipodystrophy that is characterized by extreme s..[+]
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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 |
A syndrome that is characterized by congenital mic..[+]
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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; 3MCC deficiency; 3-Methylcrotonyl..
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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; infratentorial pr..
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An infratentorial cancer that is located_in the lo..[+]
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1 articles | 6 matches |
MHC class I deficiency |
n_a
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Simpson-Golabi-Behmel syndrome type 1 |
bulldog syndrome; DGSX Golabi-Rosen syndrome; Sara..
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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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Ohdo syndrome, SBBYS variant |
blepharophimosis-intellectual disability syndrome,..
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A Ohdo syndrome that is characterized by blepharop..[+]
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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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NFIA-related disorder |
brain malformations with or without urinary tract ..
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A syndrome that has_material_basis_in heterozygous..[+]
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Lisch epithelial corneal dystrophy |
band-shaped and whorled microcystic; LECD
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An epithelial and subepithelial dystrophy that is ..[+]
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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; White-Garland syndro..
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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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An osteochondrodysplasia that is a form of microce..[+]
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1 articles | |
megacystis-microcolon-intestinal hypoperistalsis syndrome |
Berdon syndrome; visceral myopathy; Megacystis mic..
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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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syndromic X-linked intellectual disability Turner type |
Brooks-Wisniewski-Brown syndrome; mental retardati..
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A syndromic X-linked intellectual disability 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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hypoparathyroidism-deafness-renal disease syndrome |
Barakat syndrome; HDR syndrome; hypoparathyroidism..
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A chromosomal deletion syndrome that is characteri..[+]
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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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progressive familial intrahepatic cholestasis 2 |
BSEP deficiency; PFIC2
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A progressive familial intrahepatic cholestasis ch..[+]
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multiple epiphyseal dysplasia 5 |
A multiple epiphyseal dysplasia that has_material_..[+]
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craniolenticulosutural dysplasia |
Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural ..
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A syndrome in neonates that is characterized by fa..[+]
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primary biliary cholangitis 1 |
BILIARY CIRRHOSIS, PRIMARY, 1; PBC1
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A primary biliary cholangitis that has_material_ba..[+]
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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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