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Disease Synonyms Description Articles Phenotypes
pancreatic ductal adenocarcinoma
ductal adenocarcinoma of the pancreas
A pancreatic adenocarcinoma that derives_from panc..[+]
pyruvate decarboxylase deficiency
deficiency of pyruvic dehydrogenase; pyruvate dehy.. [+]
A carbohydrate metabolic disorder characterized by..[+]
pyruvate carboxylase deficiency disease
deficiency of pyruvic carboxylase
n_a
leukorrhea
discharge - leukorrhea; Leukorrhea of vagina
n_a
porokeratosis
disseminated superficial actinic porokeratosis
n_a
congenital diaphragmatic hernia
Diaphragmatic Hernia
A diaphragm disease characterized by the lack of d..[+]
adiposis dolorosa
Dercum disease
n_a
agnosia
Dyspraxia syndrome; Dyspraxia (finding)
A communication disorder that is a loss of ability..[+]
bile duct disease
disorder of bile duct (disorder); bile duct disord.. [+]
n_a
glucose metabolism disease
disorder of glucose metabolism (disorder)
n_a
tinea capitis
dermatophytosis of scalp or beard; Dermatophytosis.. [+]
A dermatophytosis that results_in contagious funga..[+]
cutaneous fibrous histiocytoma
Dermatofibroma, no ICD-O subtype (morphologic abno.. [+]
n_a
Ollier disease
DYSCHONDROPLASIA; Enchondromatosis with haemangiom.. [+]
A syndrome that is characterized by an asymmetric ..[+]
atrophic rhinitis
dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhini.. [+]
A rhinitis which involves inflammation of the nose..[+]
medulloepithelioma
Diktyoma, malignant; Medulloepithelioma NOS (morph.. [+]
n_a
Gorham's disease
Disappearing bone disease (disorder); essential os.. [+]
A syndrome that is characterized by bone loss (ost..[+]
epidermolysis bullosa dystrophica
Dystrophic epidermolysis bullosa
n_a
neurotic disorder
depressive neurosis; neurosis; neurotic depression.. [+]
An anxiety disorder that involves discress but nei..[+]
Camurati-Engelmann disease
Diaphyseal dysplasia; Engelman's disease; progress.. [+]
An osteosclerosis that has_material_basis_in mutat..[+]
eccrine papillary adenocarcinoma
Digital papillary adenocarcinoma
n_a
chiasmal syndrome
disorder of optic chiasm; chiasma syndrome
An optic nerve disease that is characterized by le..[+]
cranial nerve disease
disorder of cranial nerve; Cranial nerve disorder; .. [+]
A neuropathy that is located_in one of the twelve ..[+]
cribriform carcinoma
ductal carcinoma, cribriform type; Cribriform carc.. [+]
n_a
purine nucleoside phosphorylase deficiency
deficiency of inosine phosphorylase; PNP deficienc.. [+]
A combined T cell and B cell immunodeficiency that..[+]
gastric diffuse adenocarcinoma
diffuse type carcinoma; Diffuse type adenocarcinom.. [+]
n_a
Cowden disease
dysplastic Gangliocytoma of Cerebellum; Lhermitte-.. [+]
An autosomal dominant disease characterized by mul..[+]
fibrillary astrocytoma
diffuse astrocytoma; Fibrillary Astrocytic tumors; .. [+]
A malignant astrocytoma that is characterized as a..[+]
subacute thyroiditis
de Quervain's thyroiditis; De Quervain's thyroidit.. [+]
n_a
osteoarthritis
degenerative joint disease; degenerative arthritis.. [+]
An arthritis that has_material_basis_in worn out c..[+]
retinal degeneration
degeneration of retina; RETINA degeneration
A retinal disease that is characterized by deterio..[+]
neuromyelitis optica
Devic's syndrome; Devic's disease
A central nervous system disease characterized by ..[+]
plantar fascial fibromatosis
Dupuytren's contracture of foot (disorder); Ledder.. [+]
n_a
Ritter's disease
Dermatitis exfoliativa neonatorum; Pemphigus neona.. [+]
A commensal bacterial infectious disease that is c..[+]
systemic lupus erythematosus
disseminated lupus erythematosus; Lupus Erythemato.. [+]
A lupus erythematosus that is an inflammation of c..[+]
cutaneous leishmaniasis
diffuse cutaneous leishmaniasis; Asian Desert Cuta.. [+]
A leishmaniasis that involves skin infection cause..[+]
granuloma inguinale
donovanosis; (Granuloma inguinale) or (donovanosis.. [+]
A primary bacterial infectious disease that result..[+]
neurotic excoriation
Dermatitis factitia [artefacta]; Dermatitis ficta; .. [+]
n_a
pityriasis rubra pilaris
Devergie's disease; Pityriasis rubra pilaris (diso.. [+]
n_a
pompholyx
dyshidrosis; DYSHYDROTIC ECZEMA; Cheiropompholyx; .. [+]
A sweat gland disease that is characterized by rec..[+]
cerebral amyloid angiopathy
dutch hereditary cerebral amyloid angiopathy; Here.. [+]
An amyloidosis where amyloid protein progressively..[+]
histidine metabolism disease
Disturbances of histidine metabolism
An amino acid metabolic disorder that involves def..[+]
urea cycle disorder
disorder of urea cycle metabolism; disorder of met.. [+]
An amino acid metabolic disorder that involves a d..[+]
maple syrup urine disease
dihydrolipoamide dehydrogenase deficiency; branche.. [+]
An organic acidemia that is caused by a deficiency..[+]
alkaptonuria
deficiency of homogentisicase; alcaptonuria; Homog.. [+]
An amino acid metabolic disorder that involves phe..[+]
ornithine carbamoyltransferase deficiency
deficiency of citrulline phosphorylase; ornithine .. [+]
An urea cycle disorder that involves a mutated and..[+]
citrullinemia
deficiency of citrulline-aspartate ligase; ASS def.. [+]
An urea cycle disorder that involves the accumulat..[+]
hyperargininemia
deficiency of canavanase; Arginase deficiency (dis.. [+]
An urea cycle disorder that involves arginase defi..[+]
lip disease
disease of lips
n_a
carotid artery dissection
Dissection of carotid artery; Carotid artery disse.. [+]
n_a
neonatal abstinence syndrome
Drug withdrawal syndrome in newborn
A withdrawal disorder that is characterized by a g..[+]

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