| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Pelizaeus-Merzbacher disease
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diffuse familial brain sclerosis; HLD1; Leukodystr..
[+]
diffuse familial brain sclerosis; HLD1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; sudanophilic leukodystrophy, Paelizeus-Merzbacher type; hypomyelinating leukodystrophy 1; PMD
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A hypomyelinating leukodystrophy characterized by .. [+]A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
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lysosomal storage disease
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disorder of lysosomal enzyme; disorder of lysosoma..
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disorder of lysosomal enzyme; disorder of lysosomal enzyme (disorder); lysosomal storage metabolism disorder; inborn lysosomal enzyme disorder
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An inherited metabolic disorder that involve an ab.. [+]An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
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6 articles
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thymoma type B
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dendritic cell thymoma; epithelioid Thymoma
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A thymoma that is an epithelial neoplasm arising f.. [+]A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
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bipolar disorder
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Depressive-manic psych.; bipolar disorder manic ph..
[+]
Depressive-manic psych.; bipolar disorder manic phase; Manic Bipolar Affective disorder; Manic Depressive disorder; manic disorder; Manic bipolar I disorder; manic depression; mixed bipolar disorder; bipolar depression
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A mood disorder that involves alternating periods .. [+]A mood disorder that involves alternating periods of mania and depression.
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2 articles
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Tay-Sachs disease
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disease, Tay-Sachs; hexosaminidase A deficiency; T..
[+]
disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder); A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; GM2 gangliosidosis, type 1
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A GM2 gangliosidosis that is characterized onset i.. [+]A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
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GM1 gangliosidosis
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deficiency of beta-galactosidase; deficiency of be..
[+]
deficiency of beta-galactosidase; deficiency of beta-galactosidase (disorder); Beta-galactosidase deficiency; beta-Galactosidase deficiency; GM>1< gangliosidosis (disorder); Landing syndrome; GM1 gangliosidosis (disorder); gangliosidosis GM1
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A gangliosidosis that is characterized by progress.. [+]A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
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periodontal disease
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disease of supporting structures of teeth; disease..
[+]
disease of supporting structures of teeth; disease of supporting structures of teeth, NOS; Periodontal disease (disorder); Periodontal disease; periodontium disorder
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A mouth disease that is relating to or affecting t.. [+]A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
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carotid artery disease
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disorder of carotid artery; disorder of carotid ar..
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disorder of carotid artery; disorder of carotid artery (disorder)
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n_a
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alpha-mannosidosis
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deficiency of alpha-mannosidase; deficiency of alp..
[+]
deficiency of alpha-mannosidase; deficiency of alpha-mannosidase (disorder); Alpha-D-mannosidosis; alpha-mannosidase deficiency
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A lysosomal storage disease that has_material_basi.. [+]A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
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inclusion body myositis
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Distal myopathy, Nonaka type; Distal Myopathy with..
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Distal myopathy, Nonaka type; Distal Myopathy with Rimmed Vacuoles; Distal Myopathy with Rimmed Vacuoles (DMRV); HIBM; inclusion body myopathy 3; Hereditary Inclusion Body Myopathy; Nonaka myopathy; IBM-3; inclusion body myopathy 2; Nonaka Myopathy; IBM2
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A myositis that is characterized by late onset of .. [+]A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
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3 articles
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pancreatic ductal adenocarcinoma
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ductal adenocarcinoma of the pancreas
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A pancreatic adenocarcinoma that derives_from panc.. [+]A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
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pyruvate decarboxylase deficiency
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deficiency of pyruvic dehydrogenase; pyruvate dehy..
[+]
deficiency of pyruvic dehydrogenase; pyruvate dehydrogenase complex deficiency disease; pyruvate dehydrogenase deficiency
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A carbohydrate metabolic disorder characterized by.. [+]A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
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pyruvate carboxylase deficiency disease
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deficiency of pyruvic carboxylase
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A carbohydrate metabolic disorder that is characte.. [+]A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
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leukorrhea
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discharge - leukorrhea; Leukorrhea of vagina
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A vaginal discharge that is characterized by a whi.. [+]A vaginal discharge that is characterized by a whitish or yellow color.
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porokeratosis
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disseminated superficial actinic porokeratosis
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n_a
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congenital diaphragmatic hernia
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Diaphragmatic Hernia
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A diaphragm disease characterized by the lack of d.. [+]A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
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1 articles
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adiposis dolorosa
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Dercum disease
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n_a
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agnosia
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Dyspraxia syndrome; Dyspraxia; Dyspraxia (finding)..
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Dyspraxia; Dyspraxia syndrome; Dyspraxia (finding)
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A communication disorder that is a loss of ability.. [+]A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
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3 articles
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bile duct disease
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disorder of bile duct; disorder of bile duct (diso..
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disorder of bile duct; disorder of bile duct (disorder); bile duct disorder NOS (disorder); bile duct disorder
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A biliary tract disease located_in one or more bil.. [+]A biliary tract disease located_in one or more bile ducts.
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4 articles
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glucose metabolism disease
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disorder of glucose metabolism; disorder of glucos..
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disorder of glucose metabolism; disorder of glucose metabolism (disorder)
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n_a
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33 articles
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tinea capitis
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dermatophytosis of scalp or beard; Dermatophytosis..
[+]
dermatophytosis of scalp or beard; Dermatophytosis of scalp; tinea capitis due to Trichophyton rubrum; Trichophyton rubrum tinea capitis; Scalp ringworm
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A dermatophytosis that results_in contagious funga.. [+]A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
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cutaneous fibrous histiocytoma
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Dermatofibroma NOS; Dermatofibroma; Dermatofibroma..
[+]
Dermatofibroma; Dermatofibroma NOS; Dermatofibroma, no ICD-O subtype (morphologic abnormality); dermatofibroma; benign Cutaneous fibrous Histiocytoma; Fibrohistiocytic neoplasm; fibrohistiocytic tumor; fibrous histiocytoma of skin (disorder); fibrous xanthoma of skin (disorder); Pleomorphic fibroma; Sclerosing angioma (morphologic abnormality); Fibrohistiocytic tumor (disorder); Sclerosing angioma of skin; fibrous histiocytoma of skin; Sclerosing angioma; fibrous xanthoma of skin; Fibrohistiocytic tumor
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n_a
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Ollier disease
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DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast..
[+]
DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast's syndrome; OSTEOCHONDROMATOSIS; Enchondromatosis with haemangiomata
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A syndrome that is characterized by an asymmetric .. [+]A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
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atrophic rhinitis
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dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhini..
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dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhinitis, atrophic
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A rhinitis which involves inflammation of the nose.. [+]A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.
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medulloepithelioma
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Diktyoma, malignant; Medulloepithelioma NOS (morph..
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Diktyoma, malignant; Medulloepithelioma NOS (morphologic abnormality); Medulloepithelioma; Medulloepithelioma, central nervous system
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n_a
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Gorham's disease
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Disappearing bone disease; Disappearing bone disea..
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Disappearing bone disease; Disappearing bone disease (disorder); essential osteolysis; Gorham disease; massive osteolysis; Gorham-Stout Syndrome; phantom bone disease
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A syndrome that is characterized by bone loss (ost.. [+]A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
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epidermolysis bullosa dystrophica
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Dystrophic epidermolysis bullosa
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An epidermolysis bullosa that is characterized by .. [+]An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
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neurotic disorder
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depressive neurosis; Psychoneurosis; neurosis; Neu..
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depressive neurosis; Psychoneurosis; neurosis; Neurotic depression reactive type; Neurotic depressive state; reactive depression; neurotic depression; Psychoneurosis NOS
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An anxiety disorder that involves discress but nei.. [+]An anxiety disorder that involves discress but neither delusions nor hallucinations.
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Camurati-Engelmann disease
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Diaphyseal dysplasia; Engelman's disease; progress..
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Diaphyseal dysplasia; Engelman's disease; progressive diaphyseal dysplasia
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An osteosclerosis that has_material_basis_in mutat.. [+]An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
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eccrine papillary adenocarcinoma
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Digital papillary adenocarcinoma
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n_a
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chiasmal syndrome
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disorder of optic chiasm; chiasma syndrome
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An optic nerve disease that is characterized by le.. [+]An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve.
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cranial nerve disease
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disorder of cranial nerve; Cranial nerve disorder; ..
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disorder of cranial nerve; Cranial nerve disorder
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A neuropathy that is located_in one of the twelve .. [+]A neuropathy that is located_in one of the twelve cranial nerves.
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2 articles
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cribriform carcinoma
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ductal carcinoma, cribriform type; Cribriform carc..
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ductal carcinoma, cribriform type; Cribriform carcinoma
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A breast carcinoma that is characterized by an irr.. [+]A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.
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purine nucleoside phosphorylase deficiency
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deficiency of inosine phosphorylase; Purine-Nucleo..
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deficiency of inosine phosphorylase; Purine-Nucleoside Phosphorylase deficiency; PNP deficiency; Purine nucleoside phosphorylase deficiency
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A combined T cell and B cell immunodeficiency that.. [+]A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
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gastric diffuse adenocarcinoma
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diffuse type carcinoma; Diffuse type adenocarcinom..
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diffuse type carcinoma; Diffuse type adenocarcinoma; carcinoma, diffuse type (morphologic abnormality); adenocarcinoma of Linitis Plastica type; carcinoma, diffuse type
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A gastric adenocarcinoma that is characterized by .. [+]A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
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Cowden syndrome
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dysplastic Gangliocytoma of Cerebellum; Lhermitte-..
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dysplastic Gangliocytoma of Cerebellum; Lhermitte-Duclos disease (disorder); multiple hamartoma syndrome; Cowden disease; Lhermitte-Duclos disease
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A PTEN hamartoma tumor syndrome that is characteri.. [+]A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
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fibrillary astrocytoma
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diffuse astrocytoma; Fibrillary Astrocytic tumors; ..
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diffuse astrocytoma; Fibrillary Astrocytic tumors
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A malignant astrocytoma that is characterized as a.. [+]A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.
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subacute thyroiditis
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de Quervain's thyroiditis; De Quervain's thyroidit..
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de Quervain's thyroiditis; De Quervain's thyroiditis; Giant-cell thyroiditis; Subacute Thyroiditis; Subacute thyroiditis (disorder); Subacute thyroiditis; Granulomatous thyroiditis; Subacute Granulomatous Thyroiditis
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n_a
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osteoarthritis
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degenerative joint disease; degenerative arthritis..
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degenerative joint disease; degenerative arthritis; osteoarthrosis; Osteoarthrosis and allied disorder; hypertrophic arthritis
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An arthritis that has_material_basis_in worn out c.. [+]An arthritis that has_material_basis_in worn out cartilage located_in joint.
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3 articles
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retinal degeneration
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degeneration of retina; RETINA degeneration
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A retinal disease that is characterized by deterio.. [+]A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
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24 articles
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34 matches
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mucormycosis
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disseminated mucormycosis; Mucormycosis (disorder)..
[+]
disseminated mucormycosis; Mucormycosis (disorder); Mucormycosis, unspecified; Mucormycosis, unspecified (disorder); Phycomycosis or Mucormycosis; zygomycosis; Zygomycosis (disorder); Zygomycosis [Phycomycosis or Mucormycosis]; Zygomycosis, unspecified (disorder)
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An opportunistic mycosis that results_in fungal in.. [+]An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds.
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neuromyelitis optica
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Devic's syndrome; Devic's disease
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A central nervous system disease characterized by .. [+]A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
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1 articles
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plantar fascial fibromatosis
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Dupuytren's contracture of foot; Dupuytren's contr..
[+]
Dupuytren's contracture of foot; Dupuytren's contracture of foot (disorder); Ledderhose's disease; Plantar fascial fibromatosis (disorder); Plantar fascial fibromatosis
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A connective tissue disease characterized by progr.. [+]A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture.
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Ritter's disease
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Dermatitis exfoliativa neonatorum; Ritter disease; ..
[+]
Dermatitis exfoliativa neonatorum; Ritter disease; Scalded skin syndrome; Staphylococcal scalded skin syndrome (disorder); Toxic epidermal necrolysis, subcorneal type (disorder); Pemphigus neonatorum; Toxic epidermal necrolysis, subcorneal type; Staphylococcal scalded skin syndrome
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A commensal bacterial infectious disease that is c.. [+]A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
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systemic lupus erythematosus
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disseminated lupus erythematosus; Lupus Erythemato..
[+]
disseminated lupus erythematosus; Lupus Erythematosus, systemic; SLE - Lupus Erythematosus, systemic
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A lupus erythematosus that is an inflammation of c.. [+]A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
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1 articles
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cutaneous leishmaniasis
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diffuse cutaneous leishmaniasis; Asian Desert Cuta..
[+]
diffuse cutaneous leishmaniasis; Asian Desert Cutaneous Leishmaniasis; Leproid leishmaniasis
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A leishmaniasis that involves skin infection cause.. [+]A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
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granuloma inguinale
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donovanosis; Granuloma Inguinale; Granuloma inguin..
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donovanosis; Granuloma Inguinale; Granuloma inguinale (disorder); Pudendal ulcer; (Granuloma inguinale) or (donovanosis) or (pudendal ulcer); Granuloma inguinale; pudendal ulcer
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
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neurotic excoriation
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Dermatitis artefacta; Dermatitis factitia; Dermati..
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Dermatitis factitia; Dermatitis artefacta; Dermatitis factitia (disorder); Dermatitis ficta; Dermatitis factitia [artefacta]; Factitious skin disease (disorder); Factitious skin disease
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n_a
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pityriasis rubra pilaris
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Devergie's disease; Pityriasis rubra pilaris (diso..
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Devergie's disease; Pityriasis rubra pilaris (disorder); Pityriasis rubra pilaris
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A skin disease that is characterized by hyperkerat.. [+]A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
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pompholyx
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dyshidrosis; DYSHYDROTIC ECZEMA; Cheiropompholyx; ..
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DYSHYDROTIC ECZEMA; dyshidrosis; Cheiropompholyx; Vesicular eczema of hands and/or feet
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A sweat gland disease that is characterized by rec.. [+]A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin.
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