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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
vertebral artery occlusion
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Occlusion and stenosis of vertebral artery
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n_a
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endometriosis of ovary
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ovarian endometriosis
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A female reproductive system disease characterized.. [+]
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
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suppurative otitis media
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Otitis media with effusion - purulent; Purulent ot..
[+]
Otitis media with effusion - purulent; Purulent otitis media
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A otitis media which involves inflammation of the .. [+]
A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
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cicatricial pemphigoid
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Ocular pemphigoid; ocular pemphigus; benign mucous..
[+]
ocular pemphigus; Ocular pemphigoid; benign mucous membrane pemphigoid; Cicatricial pemphigoid with ocular involvement; benign mucous membrane pemphigoid with ocular involvement
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A pemphigoid that is characterized by skin lesions.. [+]
A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
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spontaneous ocular nystagmus
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Ocular nystagmus; visual deprivation nystagmus; vi..
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Ocular nystagmus; visual deprivation nystagmus; visual deprivation nystagmus (disorder); Searching eye movements
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n_a
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ureteric orifice cancer
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Orifice of the Ureter; malignant tumor of ureteric..
[+]
Orifice of the Ureter; malignant tumor of ureteric orifice (disorder); malignant neoplasm of ureteric orifice of urinary bladder; malignant tumor of ureteric orifice
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n_a
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urethral obstruction
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Obstruction of urethra; Obstruction of urethra (di..
[+]
Obstruction of urethra; Obstruction of urethra (disorder)
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n_a
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mucopolysaccharidosis IV
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Osteochondrodystrophy; chondroosteodystrophy; defi..
[+]
Osteochondrodystrophy; chondroosteodystrophy; deficiency of chondroitinsulphatase; deficiency of N-acetylgalactosamine-6-sulphatase; galactosamine-6-sulfatase deficiency; Morquio syndrome A; MPS IV - Morquio syndrome A; MPS IV - Morquio syndrome B; mucopolysaccharidosis type IVA; Mucopolysaccharidosis, MPS-IV-A (disorder); Morquio A disease; Mucopolysaccharidosis type IVB; Mucopolysaccharidosis, MPS-IV
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A mucopolysaccharidosis characterized by a deficie.. [+]
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
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Plasmodium ovale malaria
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Ovale malaria; Malariaby Plasmodium ovale
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A malaria characterized as a relatively mild form .. [+]
A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
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endomyocardial fibrosis
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Obscure African cardiomyopathy; obscure African ca..
[+]
Obscure African cardiomyopathy; obscure African cardiomyopathy; Obscure African cardiomyopathy (disorder); (Becker's disease) or (obscure African cardiomyopathy); African endomyocardial fibrosis; Becker's disease; Endomyocardial sclerosis
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n_a
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tinea unguium
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Onychomycosis due to dermatophyte; cellulitis and ..
[+]
Onychomycosis due to dermatophyte; cellulitis and abscess; cellulitis and abscess of finger; cellulitis and abscess of gluteal region; cellulitis and abscess of trunk; dermatophytic onychomycosis; Dermatophytosis of nail; Tinea unguium; cellulitis and abscess of buttock; Dermatophytic onychia; cellulitis and abscess of face; cellulitis and abscess of finger and toe; cellulitis and abscess of upper arm and forearm
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A dermatophytosis that results_in fungal infection.. [+]
A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
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paronychia
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Onychia and paronychia of toe; Onychia and paronyc..
[+]
Onychia and paronychia of toe; Onychia and paronychia of finger; fungal nail infection; Infected nailfold; paronychia inflammation
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A nail disease characterized by often-tender bacte.. [+]
A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
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hairy tongue
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Overgrowth of filiform papillae; Overgrowth of fil..
[+]
Overgrowth of filiform papillae; Overgrowth of filiform papillae (disorder); Hairy Tongue
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n_a
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Moebius syndrome
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Oromandibular-limb hypogenesis spectrum; Moebius c..
[+]
Oromandibular-limb hypogenesis spectrum; Moebius congenital oculofacial paralysis; Mobius syndrome
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A facial nerve disease characterized by congenital.. [+]
A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
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cholestasis
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Obstruction of bile duct; bile occlusion
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A bile duct disease that is characterized by where.. [+]
A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
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3 articles
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patent foramen ovale
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Ostium secundum type atrial septal defect; Atrial ..
[+]
Ostium secundum type atrial septal defect; Atrial septal defect within oval fossa; Defect, Patent or persistent, ostium secundum; Persistent ostium secundum; foramen ovale patent
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n_a
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clonorchiasis
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Oriental liver fluke disease
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A parasitic helminthiasis infectious disease that .. [+]
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
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lacrimal duct obstruction
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Obstruction of lacrimal canaliculus; Obstruction o..
[+]
Obstruction of lacrimal canaliculus; Obstruction of lacrimal ducts; Blocked lacrimal canaliculus
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n_a
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bladder neck obstruction
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Obstruction of bladder neck or vesicourethral orif..
[+]
Obstruction of bladder neck or vesicourethral orifice
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n_a
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Legg-Calve-Perthes disease
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osteochondrosis of Legg-Calve-Perthes; Juvenile os..
[+]
osteochondrosis of Legg-Calve-Perthes; Juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); Legg-Calve-Perthes symptom; Perthe's disease; Perthes disease; Coxa plana; Calve - Perthes' disease; Juvenile osteochondrosis of hip and/or pelvis; pseudocoxalgia; Pseudocoxalgia
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An osteochondrosis that results_in death and fract.. [+]
An osteochondrosis that results_in death and fracture located_in hip joint.
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FG syndrome
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Opitz-Kaveggia syndrome; Keller syndrome
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A syndrome characterized by retardation, hyperacti.. [+]
A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
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Japanese spotted fever
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oriental spotted fever; Rickettsia japonica spotte..
[+]
oriental spotted fever; Rickettsia japonica spotted fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
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Carrion's disease
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Oroya fever; Carrion disease
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A bartonellosis that results_in infection located_.. [+]
A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
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tooth agenesis
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oligodontia; hypodontia; selective tooth agenesis; ..
[+]
oligodontia; hypodontia; selective tooth agenesis; familial tooth agenesis
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A tooth disease characterized by failure to develo.. [+]
A tooth disease characterized by failure to develop one or more missing teeth.
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1 articles
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familial visceral amyloidosis
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OSTERTAG TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL R..
[+]
OSTERTAG TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidosis; systemic nonneuropathic amyloidosis
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An amyloidosis that is characterized by the abnorm.. [+]
An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
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tyrosinemia type II
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Oculocutaneous tyrosinemia; Richner-Hanhart syndro..
[+]
Oculocutaneous tyrosinemia; Richner-Hanhart syndrome
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A tyrosinemia that has_material_basis_in deficienc.. [+]
A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
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spondyloepiphyseal dysplasia with congenital joint dislocations
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Omani Type; CHST3-Related Skeletal Dysplasia; Hume..
[+]
Omani Type; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Humerospinal dysostosis; Kozlowski Celermajer Tink syndrome; Spondyloepiphyseal Dysplasia; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; humero-spinal dysostosis; humerospinal dysostosis
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A spondyloepiphyseal dysplasia that is characteriz.. [+]
A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
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urofacial syndrome
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Ochoa syndrome; hydronephrosis with peculiar facia..
[+]
Ochoa syndrome; hydronephrosis with peculiar facial expression
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A syndrome that is characterized by inverted facia.. [+]
A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
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1 articles
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focal hand dystonia
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organic writer's cramp
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A focal dystonia that affects a single muscle or s.. [+]
A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
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3MC syndrome
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oculopalatoskeletal syndrome; craniofacial-ulnar-r..
[+]
oculopalatoskeletal syndrome; craniofacial-ulnar-renal syndrome
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A syndrome characterized by blepharophimosis, blep.. [+]
A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
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Bruck syndrome
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osteogenesis imperfecta with congenital joint cont..
[+]
osteogenesis imperfecta with congenital joint contractures
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A syndrome characterized by a combination of multi.. [+]
A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
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agnathia-otocephaly complex
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otocephaly; dysgnathia complex agnathia-holoprosen..
[+]
otocephaly; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; agnathia-holoprosencephaly-situs inversus syndrome
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A physical disorder characterized by mandibular hy.. [+]
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
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Joubert syndrome with orofaciodigital defect
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OFD6; orofaciodigital syndrome VI; Varadi-Papp syn..
[+]
orofaciodigital syndrome VI; OFD6; Varadi-Papp syndrome; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome
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A Joubert syndrome that is characterized by orofac.. [+]
A Joubert syndrome that is characterized by orofaciodigital defect.
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acrofacial dysostosis, Catania type
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Opitz-Caltabiano syndrome; Opitz Mollica Sorge syn..
[+]
Opitz-Caltabiano syndrome; Opitz Mollica Sorge syndrome
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An acrofacial dysostosis that is characterized by .. [+]
An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
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Feingold syndrome
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ODED syndrome; oculo-digito-esophageal-duodenal sy..
[+]
ODED syndrome; oculo-digito-esophageal-duodenal syndrome; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; microcephaly-digital anomalies-normal intelligence syndrome
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A syndrome characterized by variable combinations .. [+]
A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
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rainbow trout allergy
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Oncorhynchus mykiss allergy
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A fish allergy triggered by Oncorhynchus mykiss.
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microcephalic osteodysplastic primordial dwarfism type I
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osteodysplastic primordial dwarfism type I; brachy..
[+]
osteodysplastic primordial dwarfism type I; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; Taybi-Linder syndrome
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An osteochondrodysplasia that is a form of microce.. [+]
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
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1 articles
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microcephalic osteodysplastic primordial dwarfism type II
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osteodysplastic primordial dwarfism type II; Majew..
[+]
osteodysplastic primordial dwarfism type II; Majewski osteodysplastic primordial dwarfism type II
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An osteochondrodysplasia that is a form of microce.. [+]
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
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2 articles
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congenital central hypoventilation syndrome
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Ondine curse; Ondine syndrome; CCHS; central conge..
[+]
Ondine syndrome; Ondine curse; CCHS; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome
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An autonomic nervous system disease characterized .. [+]
An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
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Duane-radial ray syndrome
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Okihiro syndrome; acrorenocular syndrome; DR syndr..
[+]
Okihiro syndrome; acrorenocular syndrome; DR syndrome; Duane anomaly with radial ray abnormalities and deafness
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A syndrome characterized by upper limb anomalies, .. [+]
A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
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familial temporal lobe epilepsy 4
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occipitotemporal lobe epilepsy and migraine with a..
[+]
occipitotemporal lobe epilepsy and migraine with aura; EPOLM; ETL4
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A temporal lobe epilepsy characterized by autosoma.. [+]
A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
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microphthalmia with limb anomalies
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OAS; ophthalmoacromelic syndrome; Waardenburg anop..
[+]
ophthalmoacromelic syndrome; OAS; Waardenburg anophthalmia syndrome; anophthalmia-syndactyly syndrome; MLA
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A syndrome that is characterized by autosomal rece.. [+]
A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
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leukoencephalopathy with vanishing white matter
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ovarioleukodystrophy; CACH; childhood ataxia with ..
[+]
ovarioleukodystrophy; CACH; childhood ataxia with central nervous system hypomyelination; CLE; vanishing white matter leukodystrophy; Cree leukoencephalopathy; CACH/VWM
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A leukodystrophy characterized by variable neurolo.. [+]
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
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prune belly syndrome
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Obrisnksy syndrome; abdominal muscle deficiency sy..
[+]
Obrisnksy syndrome; abdominal muscle deficiency syndrome; Eagle-Barret syndrome
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A syndrome that is characterized by megacystis wit.. [+]
A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.
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spermatogenic failure 1
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oligosynaptic infertility; oligochiasmatic inferti..
[+]
oligosynaptic infertility; oligochiasmatic infertility; SPGF1
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A spermatogenic failure that is characterized by a.. [+]
A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.
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CSF1R-related brain malformation and osteopetrosis
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osteoporosis and infantile neuroaxonal dystrophy
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A neuroaxonal dystrophy that has_material_basis_in.. [+]
A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.
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progressive leukoencephalopathy with ovarian failure
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ovarioleukodystrophy
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An leukodystrophy characterized by loss of motor a.. [+]
An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.
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foveal hypoplasia 1
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O'Donnell-Pappas syndrome; foveal hypoplasia 1 wit..
[+]
O'Donnell-Pappas syndrome; foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; foveal hypoplasia-presenile cataract syndrome; FVH1
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A retinal disease characterized by foveal hypoplas.. [+]
A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
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mitochondrial DNA depletion syndrome 7
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OHAHA SYNDROME; infantile onset spinocerebellar at..
[+]
OHAHA SYNDROME; infantile onset spinocerebellar ataxia
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A mitochondrial DNA depletion syndrome that is cha.. [+]
A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.
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Marinesco-Sjogren syndrome
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Oligophrenic cerebellolenticular degeneration; Gar..
[+]
Oligophrenic cerebellolenticular degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration
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A syndrome characterized by congenital cataracts, .. [+]
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
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