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Disease	Synonyms	Description	Articles	Phenotypes
glycogen storage disease IV	deficiency of 1,4-alpha-glucan branching enzyme; A.. [+] deficiency of 1,4-alpha-glucan branching enzyme; Amylopectinosis; Branching-transferase deficiency glycogenosis (disorder); Glycogen storage disease, type IV (disorder); brancher deficiency glycogenosis; Branching-transferase deficiency glycogenosis; Glycogen storage disease, type IV; Glycogen storage disease 4 [-]	A glycogen storage disease that has_material_basis..[+] A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. [-]
glycogen storage disease II	deficiency of maltase; deficiency of glucoamylase; .. [+] deficiency of glucoamylase; deficiency of maltase; acid maltase deficiency; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency (disorder); Glycogen storage disease, type II (disorder); Lysosomal alpha-1,4-glucosidase deficiency; Generalized glycogenosis; Pompe's disease; Glycogen storage disease, type II; Glycogen storage disease 2 [-]	A glycogen storage disease that has_material_basis..[+] A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. [-]
contact dermatitis	Dermatitis, venenata NOS; Dermatitis, venenata; de.. [+] Dermatitis, venenata; Dermatitis, venenata NOS; dermatitis venenata; Contact dermatitis NOS; Contact dermatitis NOS (disorder); Contact dermatitis (disorder); Contact dermatitis/eczema; Contact eczema; Contact dermatitis [-]	n_a	1 articles
idiopathic interstitial pneumonia	Diffuse idiopathic pulmonary fibrosis; Idiopathic .. [+] Diffuse idiopathic pulmonary fibrosis; Idiopathic fibrosing alveolitis; IPF [-]	A pneumonia located_in the lung parenchyma of unkn..[+] A pneumonia located_in the lung parenchyma of unknown cause. [-]	1 articles
nose disease	disorder of the nose; disorder of the nose (disord.. [+] disorder of the nose; disorder of the nose (disorder); nasal disorder [-]	n_a	2 articles	3 matches
glucosephosphate dehydrogenase deficiency	deficiency of G-6PD; Glucose-6-phosphate dehydroge.. [+] deficiency of G-6PD; Glucose-6-phosphate dehydrogenase deficiency [-]	A carbohydrate metabolic disorder that is characte..[+] A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). [-]
carbohydrate metabolic disorder	disorder of carbohydrate transport and metabolism; .. [+] disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolism disorder; inborn errors of carbohydrate metabolism [-]	An inherited metabolic disorder that affect the ca..[+] An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. [-]	33 articles
breast ductal carcinoma	duct carcinoma; duct carcinoma, NOS	A breast carcinoma that derives_from the lining of..[+] A breast carcinoma that derives_from the lining of milk ducts. [-]	1 articles
invasive ductal carcinoma	ductal adenocarcinoma; Invasive ductal carcinoma, .. [+] ductal adenocarcinoma; Invasive ductal carcinoma, NST; Infiltrating ductal carcinoma of breast [-]	A breast ductal carcinoma that is characterized by..[+] A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. [-]	1 articles
Balkan nephropathy	Danubian endemic familial nephropathy; DEFN; Balka.. [+] DEFN; Danubian endemic familial nephropathy; Balkan endemic nephropathy [-]	An interstitial nephritis endemic to the regions a..[+] An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. [-]
gastrointestinal system cancer	digestive system cancer; gastrointestinal tract ca.. [+] digestive system cancer; gastrointestinal tract cancer; GI tumor [-]	An organ system cancer located_in gastrointestinal..[+] An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. [-]	14 articles
scalp dermatosis	Dermatosis of scalp; Dermatosis of scalp (disorder.. [+] Dermatosis of scalp; Dermatosis of scalp (disorder) [-]	n_a
lipid metabolism disorder	dyslipidemia; fatty acid metabolism disorder	An inherited metabolic disorder that involves the ..[+] An inherited metabolic disorder that involves the creation and degradation of lipids. [-]	4 articles
malignant spindle cell melanoma	desmoplastic melanoma; spindle cell melanoma NOS (.. [+] desmoplastic melanoma; spindle cell melanoma NOS (morphologic abnormality); Spitzoid malignant melanoma; spindle cell malignant melanoma; spindle cell melanoma [-]	A melanoma that is composed of spindled neoplastic..[+] A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. [-]
Pelizaeus-Merzbacher disease	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 [-]	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. [-]
lysosomal storage disease	disorder of lysosomal enzyme; disorder of lysosoma.. [+] disorder of lysosomal enzyme; disorder of lysosomal enzyme (disorder); lysosomal storage metabolism disorder; inborn lysosomal enzyme disorder [-]	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. [-]	6 articles
thymoma type B	dendritic cell thymoma; epithelioid Thymoma	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. [-]
bipolar disorder	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 [-]	A mood disorder that involves alternating periods ..[+] A mood disorder that involves alternating periods of mania and depression. [-]	2 articles
Tay-Sachs disease	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 [-]	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. [-]
GM1 gangliosidosis	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 [-]	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. [-]
periodontal disease	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 [-]	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. [-]
carotid artery disease	disorder of carotid artery; disorder of carotid ar.. [+] disorder of carotid artery; disorder of carotid artery (disorder) [-]	n_a
alpha-mannosidosis	deficiency of alpha-mannosidase; deficiency of alp.. [+] deficiency of alpha-mannosidase; deficiency of alpha-mannosidase (disorder); Alpha-D-mannosidosis; alpha-mannosidase deficiency [-]	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. [-]
inclusion body myositis	Distal myopathy, Nonaka type; Distal Myopathy with.. [+] 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 [-]	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. [-]	3 articles
pancreatic ductal adenocarcinoma	ductal adenocarcinoma of the pancreas	A pancreatic adenocarcinoma that derives_from panc..[+] A pancreatic adenocarcinoma that derives_from pancreatic duct cells. [-]
pyruvate decarboxylase deficiency	deficiency of pyruvic dehydrogenase; pyruvate dehy.. [+] deficiency of pyruvic dehydrogenase; pyruvate dehydrogenase complex deficiency disease; pyruvate dehydrogenase deficiency [-]	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. [-]
pyruvate carboxylase deficiency disease	deficiency of pyruvic carboxylase	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. [-]
leukorrhea	discharge - leukorrhea; Leukorrhea of vagina	A vaginal discharge that is characterized by a whi..[+] A vaginal discharge that is characterized by a whitish or yellow color. [-]
porokeratosis	disseminated superficial actinic porokeratosis	n_a
congenital diaphragmatic hernia	Diaphragmatic Hernia	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. [-]	1 articles
adiposis dolorosa	Dercum disease	n_a
agnosia	Dyspraxia syndrome; Dyspraxia; Dyspraxia (finding).. [+] Dyspraxia; Dyspraxia syndrome; Dyspraxia (finding) [-]	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. [-]	3 articles
bile duct disease	disorder of bile duct; disorder of bile duct (diso.. [+] disorder of bile duct; disorder of bile duct (disorder); bile duct disorder NOS (disorder); bile duct disorder [-]	A biliary tract disease located_in one or more bil..[+] A biliary tract disease located_in one or more bile ducts. [-]	4 articles
glucose metabolism disease	disorder of glucose metabolism; disorder of glucos.. [+] disorder of glucose metabolism; disorder of glucose metabolism (disorder) [-]	n_a	33 articles
tinea capitis	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 [-]	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. [-]
cutaneous fibrous histiocytoma	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 [-]	n_a
Ollier disease	DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast.. [+] DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast's syndrome; OSTEOCHONDROMATOSIS; Enchondromatosis with haemangiomata [-]	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. [-]
atrophic rhinitis	dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhini.. [+] dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhinitis, atrophic [-]	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. [-]
medulloepithelioma	Diktyoma, malignant; Medulloepithelioma NOS (morph.. [+] Diktyoma, malignant; Medulloepithelioma NOS (morphologic abnormality); Medulloepithelioma; Medulloepithelioma, central nervous system [-]	n_a
Gorham's disease	Disappearing bone disease; Disappearing bone disea.. [+] Disappearing bone disease; Disappearing bone disease (disorder); essential osteolysis; Gorham disease; massive osteolysis; Gorham-Stout Syndrome; phantom bone disease [-]	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. [-]
epidermolysis bullosa dystrophica	Dystrophic epidermolysis bullosa	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. [-]
neurotic disorder	depressive neurosis; Psychoneurosis; neurosis; Neu.. [+] depressive neurosis; Psychoneurosis; neurosis; Neurotic depression reactive type; Neurotic depressive state; reactive depression; neurotic depression; Psychoneurosis NOS [-]	An anxiety disorder that involves discress but nei..[+] An anxiety disorder that involves discress but neither delusions nor hallucinations. [-]
Camurati-Engelmann disease	Diaphyseal dysplasia; Engelman's disease; progress.. [+] Diaphyseal dysplasia; Engelman's disease; progressive diaphyseal dysplasia [-]	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. [-]
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..[+] 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. [-]
cranial nerve disease	disorder of cranial nerve; Cranial nerve disorder; .. [+] disorder of cranial nerve; Cranial nerve disorder [-]	A neuropathy that is located_in one of the twelve ..[+] A neuropathy that is located_in one of the twelve cranial nerves. [-]	2 articles
cribriform carcinoma	ductal carcinoma, cribriform type; Cribriform carc.. [+] ductal carcinoma, cribriform type; Cribriform carcinoma [-]	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. [-]
purine nucleoside phosphorylase deficiency	deficiency of inosine phosphorylase; Purine-Nucleo.. [+] deficiency of inosine phosphorylase; Purine-Nucleoside Phosphorylase deficiency; PNP deficiency; Purine nucleoside phosphorylase deficiency [-]	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. [-]
gastric diffuse adenocarcinoma	diffuse type carcinoma; Diffuse type adenocarcinom.. [+] diffuse type carcinoma; Diffuse type adenocarcinoma; carcinoma, diffuse type (morphologic abnormality); adenocarcinoma of Linitis Plastica type; carcinoma, diffuse type [-]	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. [-]
Cowden syndrome	dysplastic Gangliocytoma of Cerebellum; Lhermitte-.. [+] dysplastic Gangliocytoma of Cerebellum; Lhermitte-Duclos disease (disorder); multiple hamartoma syndrome; Cowden disease; Lhermitte-Duclos disease [-]	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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