| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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megacolon
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Dilatation of colon
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A colonic disease that is characterized by an abno.. [+]A colonic disease that is characterized by an abnormal dilation of the colon.
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2 articles
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expressive language disorder
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Developmental expressive language disorder
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A language disorder that involves difficulties wit.. [+]A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
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corneal deposit
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Deposits - cornea
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n_a
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Chandler syndrome
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Dystrophy of corneal endothelium; Chandler's syndr..
[+]
Dystrophy of corneal endothelium; Chandler's syndrome (disorder); Endothelial corneal dystrophy; Posterior membrane corneal dystrophy; Chandler's syndrome
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A corneal dystrophy that is characterized by corne.. [+]A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.
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neurocirculatory asthenia
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Da Costa's syndrome; Cardiovascular malfunction ar..
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Da Costa's syndrome; Cardiovascular malfunction arising from mental factors; Krishaber's disease; Cardiovascular neurosis
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A somatoform disorder that involves heart disease .. [+]A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.
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Patau syndrome
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D1 Trisomy; trisomy 13; Patau's syndrome
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n_a
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neonatal diabetes
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diabetes mellitus syndrome in newborn infant; neon..
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diabetes mellitus syndrome in newborn infant; neonatal diabetes mellitus
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A diabetes mellitus that is characterized by hyper.. [+]A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.
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5 articles
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myotonic dystrophy type 1
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Dystrophia myotonica; congenital myotonic dystroph..
[+]
Dystrophia myotonica; congenital myotonic dystrophy; myotonic dystrophy of Steinert; Steinert disease
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A myotonic disease that is characterized by progre.. [+]A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
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Cornelia de Lange syndrome
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De Lange syndrome; Brachmann de Lange syndrome
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A syndrome that is characterized by slow growth be.. [+]A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
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Pick's disease
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Dementia in Pick's disease; Dementia in Pick's dis..
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Dementia in Pick's disease; Dementia in Pick's disease (disorder); LOBAR ATROPHY OF BRAIN; Pick disease; PICK DISEASE OF BRAIN
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A frontotemporal dementia that is characterized by.. [+]A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
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tinea cruris
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dermatophytosis of groin and perianal area; Dhobie..
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dermatophytosis of groin and perianal area; Dhobie itch; Dermatophytosis of groin and perianal area; Dermatophytosis of groin & perianal area; Dermatophytosis of Groin and Perianal Area; Dermatophytosis of groin and perianal area NOS (disorder); Dermatophytosis of groin and perianal area (disorder); (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris)
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A dermatophytosis that results_in fungal skin infe.. [+]A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
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panuveitis
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Diffuse uveitis
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An uveitis that is characterized by inflammation o.. [+]An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
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tinea corporis
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dermatophytosis of the body; Dermatophytosis of th..
[+]
dermatophytosis of the body; Dermatophytosis of the body; Dermatophytosis of the trunk; Dermatophytosis of the body (disorder)
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A dermatophytosis that results_in fungal infection.. [+]A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly.
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oligohydramnios
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delivered oligohydramnios; antepartum oligohydramn..
[+]
delivered oligohydramnios; antepartum oligohydramnios; Oligohydramnios - delivered
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A placenta disease that is characterized by a defi.. [+]A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
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Lewy body dementia
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Dementia with Lewy bodies; Diffuse Lewy body disea..
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Dementia with Lewy bodies; Diffuse Lewy body disease; Diffuse Lewy body disease (disorder); Senile dementia of the Lewy body type (disorder); Lewy body disease; Senile dementia of the Lewy body type
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A dementia that is characterized by the developmen.. [+]A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.
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hemophilia B
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deficiency, functional factor IX; Congenital facto..
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deficiency, functional factor IX; Congenital factor IX deficiency; Congenital factor IX disorder; factor IX deficiency
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A blood coagulation disease that has_material_basi.. [+]A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
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tinea pedis
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Dermatophytosis of foot; Athlete's foot; ringworm ..
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Dermatophytosis of foot; Athlete's foot; ringworm of foot
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A dermatophytosis that results_in fungal infection.. [+]A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
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thyrocalcitonin secretion disease
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disorder of thyrocalcitonin secretion (disorder); ..
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disorder of thyrocalcitonin secretion (disorder); disorder of thyrocalcitonin secretion
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n_a
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Vagus nerve disease
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disorder of vagus nerve; disorder of pneumogastric..
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disorder of vagus nerve; disorder of pneumogastric [10th] nerve; disorder of vagus nerve (disorder); disorder of vagal nerve; Vagus nerve disorder
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n_a
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velocardiofacial syndrome
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deletion 22q11.2 syndrome; 22q11 Deletion Syndrome..
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deletion 22q11.2 syndrome; 22q11 Deletion Syndrome; Shprintzen syndrome; VCF-Velocardiofacial syndrome
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A chromosomal deletion disease that has_material_b.. [+]A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
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hiatus hernia
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Diaphragmatic - hiatus -hernia; hiatal hernia
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n_a
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myoclonic cerebellar dyssynergia
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Dyssynergia cerebellaris myoclonica; progressive c..
[+]
Dyssynergia cerebellaris myoclonica; progressive cerebellar tremor
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n_a
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mucopolysaccharidosis II
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deficiency of iduronate-2-sulphatase; Hunter's syn..
[+]
deficiency of iduronate-2-sulphatase; Hunter's syndrome; MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder); Hunter syndrome; Mucopolysaccharidosis, MPS-II
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
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mucopolysaccharidosis VI
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deficiency of N-acetylgalactosamine-4-sulfatase; d..
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deficiency of N-acetylgalactosamine-4-sulfatase; deficiency of N-acetylgalactosamine-4-sulfatase (disorder); arylsulfatase B deficiency; Maroteaux - Lamy syndrome; Maroteaux-Lamy syndrome; MPS VI - Maroteaux-Lamy syndrome
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
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Sly syndrome
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deficiency of beta-glucuronidase; mucopolysacchari..
[+]
deficiency of beta-glucuronidase; mucopolysaccharidosis VII; beta-glucuronidase deficiency; MPS VII - Sly syndrome
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
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mucopolysaccharidosis IV
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deficiency of N-acetylgalactosamine-6-sulphatase; ..
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deficiency of N-acetylgalactosamine-6-sulphatase; deficiency of chondroitinsulphatase; chondroosteodystrophy; 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; Osteochondrodystrophy; 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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alcoholic cardiomyopathy
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Dilated cardiomyopathy secondary to alcohol; Dilat..
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Dilated cardiomyopathy secondary to alcohol; Dilated cardiomyopathy secondary to alcohol (disorder); Alcoholic cardiomyopathy; Alcohol-induced heart muscle disease
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n_a
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acute dacryocystitis
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Dacryocystitis - acute
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n_a
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tinea unguium
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Dermatophytosis of nail; Dermatophytic onychia; de..
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Dermatophytic onychia; Dermatophytosis of nail; dermatophytic onychomycosis; cellulitis and abscess; cellulitis and abscess of finger; cellulitis and abscess of gluteal region; cellulitis and abscess of trunk; Tinea unguium; cellulitis and abscess of buttock; cellulitis and abscess of face; cellulitis and abscess of finger and toe; cellulitis and abscess of upper arm and forearm; Onychomycosis due to dermatophyte
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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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protein-deficiency anemia
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deficiency anemia; Anemia due to protein deficienc..
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deficiency anemia; Anemia due to protein deficiency (disorder); Protein-deficiency anemia (disorder); Protein-deficiency anemia NOS (disorder); Protein-deficiency anaemia; protein-deficiency anaemia; Protein-deficiency anemia; Anemia due to protein deficiency
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A nutritional deficiency disease that is character.. [+]A nutritional deficiency disease that is characterized by inadequate protein intake.
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porphyria
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disorder of porphyrin metabolism; disorder of porp..
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disorder of porphyrin metabolism; disorder of porphyrin and hem metabolism; Hematoporphyria; Porphyrinopathy
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An inherited metabolic disorder that involves cert.. [+]An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
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1 articles
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tinea profunda
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Deep seated dermatophytosis; Granuloma trichophyti..
[+]
Deep seated dermatophytosis; Granuloma trichophyticum; Majocchi's granuloma
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A tinea corporis that results_in fungal infection .. [+]A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
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tinea manuum
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Dermatophytosis of hand; Tinea manus
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A dermatophytosis that results_in fungal skin infe.. [+]A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.
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childhood disintegrative disease
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Disintegrative psychosis; Disintegrative psychosis..
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Disintegrative psychosis; Disintegrative psychosis NOS (disorder); Heller's syndrome; Symbiotic psychosis
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A pervasive developmental disorder that is a rare .. [+]A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
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secondary Parkinson disease
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disorder presenting primarily with parkinsonism; s..
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disorder presenting primarily with parkinsonism; secondary parkinsonism (disorder) [Ambiguous]; secondary parkinsonism, unspecified; secondary parkinsonism, unspecified (disorder); Symptomatic parkinsonism (disorder); secondary parkinsonism (disorder); Symptomatic parkinsonism; secondary Parkinsonism; secondary parkinsonism
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n_a
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optic disk drusen
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Drusen of optic disc; optic nerve head drusen
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n_a
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alveolar periostitis
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Dry tooth socket; Dry socket; Alveolar periostitis..
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Dry socket; Dry tooth socket; Alveolar periostitis (disorder); Alveolitis of jaw (disorder); Alveolitis of jaw NOS (disorder); Alveolitis of jaw; Alveolar periostitis
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n_a
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patent foramen ovale
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Defect, Patent or persistent, ostium secundum; Atr..
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Defect, Patent or persistent, ostium secundum; Atrial septal defect within oval fossa; Persistent ostium secundum; Ostium secundum type atrial septal defect; foramen ovale patent
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n_a
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anodontia
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Developmental absence of tooth; Total anodontia of..
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Developmental absence of tooth; Total anodontia of permanent and deciduous teeth; Complete absence of teeth
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A tooth disease that is characterized by complete .. [+]A tooth disease that is characterized by complete absence of permanent teeth.
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hypoglossal nerve disease
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disorder of hypoglossal nerve; disorder of 12th ne..
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disorder of hypoglossal nerve; disorder of 12th nerve; disorder of XII nerve; disorder of hypoglossal nerve (disorder); disorder of hypoglossal [12th] nerve
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A glossopharyngeal nerve disease that is located_i.. [+]A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
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lymphogranuloma venereum
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Durand-Nicolas-Favre disease; Lymphogranuloma ingu..
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Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Strumous bubo; Poradenitis inguinale; Climatic or tropical bubo
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A commensal bacterial infectious disease that resu.. [+]A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
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patent ductus arteriosus
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ductus arteriosus, Patent; Patent ductus Botalli
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n_a
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trochlear nerve disease
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disorder of trochlear nerve; Superior oblique musc..
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disorder of trochlear nerve; Superior oblique muscle innervation disorder; Trochlear nerve disorder, NOS; Trochlear nerve disorder
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n_a
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red-green color blindness
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Deutan defect; Deuteranopia; Reduced red-green dis..
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Deuteranopia; Deutan defect; Reduced red-green discrimination
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n_a
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root caries
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Dental caries of root surface; Cementum caries; Ro..
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Dental caries of root surface; Cementum caries; Root caries
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n_a
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hypophosphatasia
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deficiency of alkaline phosphatase; deficiency of ..
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deficiency of alkaline phosphatase; deficiency of alkaline phosphatase (disorder) [Ambiguous]; deficiency of alkaline phosphatase (disorder); childhood hypophosphatasia (disorder); hypophospatasia, childhood; childhood hypophosphatasia
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A syndrome characterized by disruption of minerali.. [+]A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
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abdominal obesity-metabolic syndrome 1
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dysmetabolic syndrome X; abdominal obesity-metabol..
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dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1; metabolic syndrome X
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An abdominal obesity-metabolic syndrome characteri.. [+]An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
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vulvar dystrophy
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Dystrophy of vulva
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A vulvar disease that is characterized as irregula.. [+]A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
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systemic primary carnitine deficiency disease
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deficiency of plasma-membrane carnitine transporte..
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deficiency of plasma-membrane carnitine transporter; carnitine transporter deficiency; carnitine uptake defect; renal carnitine transport defect (disorder); renal carnitine transport defect; primary carnitine deficiency
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An amino acid metabolic disorder that involves def.. [+]An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
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Fabry disease
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deficiency of melibiase; Alpha-galactosidase A def..
[+]
deficiency of melibiase; Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; alpha galactosidase deficiency; Fabry's disease; Fabry Disease, Cardiac Variant
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A sphingolipidosis that is characterized by the bu.. [+]A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
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