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Disease	Synonyms	Description
distal hereditary motor neuronopathy type 2A	distal hereditary motor neuropathy type IIA; autos.. [+] distal hereditary motor neuropathy type IIA; autosomal dominant adult spinal muscular atrophy IIA; HMN IIA; HMN2A; spinal Charcot-Marie-Tooth disease IIA [-]	A distal hereditary motor neuropathy type 2 that h..[+] A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. [-]
distal hereditary motor neuronopathy type 2D	distal spinal muscular atrophy with calf predomina.. [+] distal spinal muscular atrophy with calf predominance; distal hereditary motor neuropathy type IID; HMN IID; HMN2D [-]	A distal hereditary motor neuropathy type 2 that h..[+] A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32. [-]
distal spinal muscular atrophy type 5	DSMA5; autosomal recessive distal spinal muscular .. [+] DSMA5; autosomal recessive distal spinal muscular atrophy type 5; young adult-onset dHMN; young adult-onset distal hereditary motor neuropathy [-]	A autosomal recessive distal hereditary motor neur..[+] A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. [-]
D-2-hydroxyglutaric aciduria 2	D2HGA2	A D-2-hydroxyglutaric aciduria that has_material_b..[+] A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. [-]
dehydrated hereditary stomatocytosis 1	dehydrated hereditary stomatocytosis 1 with or wit.. [+] dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; pseudohyperkalemia edinburgh; pseudohyperkalemia familial 1, due to red cell leak; PSHK1 [-]	A dehydrated hereditary stomatocytosis that has_ma..[+] A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	dilated cardiomyopathy with premature ovarian fail.. [+] dilated cardiomyopathy with premature ovarian failure; dilated cardiomyopathy with hypergonadotropic hypogonadism; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; genital anomaly with cardiomyopathy; Malouf syndrome; Najjar syndrome [-]	A syndrome characterized by dilated cardiomyopathy..[+] A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
distal arthrogryposis type 1	digitotalar dysmorphism; DA1	A distal arthrogryposis characterized by autosomal..[+] A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. [-]
distal arthrogryposis type 2B	DA2B; Freeman-Sheldon syndrome variant; Sheldon-Ha.. [+] DA2B; Freeman-Sheldon syndrome variant; Sheldon-Hall syndrome [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [-]
distal arthrogryposis type 2A	distal arthrogryposis type 2A (Freeman-Sheldon); D.. [+] distal arthrogryposis type 2A (Freeman-Sheldon); DA2A [-]	A Freeman-Sheldon syndrome that has_material_basis..[+] A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. [-]
distal arthrogryposis type 3	distal arthrogryposis multiplex congenita type IIA.. [+] distal arthrogryposis multiplex congenita type IIA; DA3; camptodactyly-cleft palate-clubfoot syndrome; Gordon syndrome [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. [-]
DOORS syndrome	DOOR syndrome; DOORS; deafness-onychoosteodystroph.. [+] DOORS; DOOR syndrome; deafness-onychoosteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; autosomal recessive deafness-onychodystrophy syndrome [-]	A syndrome characterized by sensorineural deafness..[+] A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. [-]
diffuse cystic renal dysplasia	CYSRD; renal dysplasia diffuse cystic; susceptibil.. [+] CYSRD; renal dysplasia diffuse cystic; susceptibility to cystic renal dysplasia [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]
Diamond-Blackfan anemia 7	DBA7; RPL11-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. [-]
Diamond-Blackfan anemia 2	DBA2	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. [-]
Diamond-blackfan anemia 3	DBA3; RPS24-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. [-]
Diamond-Blackfan anemia 20	DBA20; RPS15A-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. [-]
Diamond-Blackfan anemia 16	DBA16; RPL27-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. [-]
developmental and epileptic encephalopathy		An electroclinical syndrome characterized by epile..[+] An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. [-]
developmental and epileptic encephalopathy 70	DEE70; early infantile epileptic encephalopathy 70.. [+] DEE70; early infantile epileptic encephalopathy 70 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. [-]
developmental and epileptic encephalopathy 73	DEE73; early infantile epileptic encephalopathy 73.. [+] DEE73; early infantile epileptic encephalopathy 73 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. [-]
developmental and epileptic encephalopathy 79	DEE79; early infantile epileptic encephalopathy 79.. [+] DEE79; early infantile epileptic encephalopathy 79 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. [-]
developmental and epileptic encephalopathy 81	DEE81; early infantile epileptic encephalopathy 81.. [+] DEE81; early infantile epileptic encephalopathy 81 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. [-]
developmental and epileptic encephalopathy 88	DEE88; early infantile epileptic encephalopathy 88.. [+] DEE88; early infantile epileptic encephalopathy 88 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. [-]
mitral valve disease	disease of mitral valve; chronic rheumatic mitral .. [+] disease of mitral valve; chronic rheumatic mitral valve (disorder); Mitral RH valve dis.; rheumatic disease of mitral valve; Rheumatic disease of mitral valve (disorder); Rheumatic mitral insufficiency; Rheumatic mitral valve changes; rheumatic mitral valve incompetence; Rheumatic mitral valve regurgitation [-]	n_a
connective tissue disease	disorder of connective tissue; connective tissue d.. [+] disorder of connective tissue; connective tissue disorder [-]	A musculoskeletal system disease that affects tiss..[+] A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. [-]
hematopoietic system disease	DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS; dis.. [+] DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS; disease of hematopoietic system; Blood disease; blood disorder; Blood dyscrasia NOS; Hematological disease [-]	An immune system disease that has_material_basis_i..[+] An immune system disease that has_material_basis_in hematopoietic cells. [-]
lymphatic system disease	disorder of lymphoid system; disorder of lymphatic.. [+] disorder of lymphoid system; disorder of lymphatic system; disorder of lymph node and lymphatics (disorder); disease of lympoid system; Adenopathy; Lymphangiopathy, NOS; Lymphatic disease; Lymphatic disorder; lymphatic disorder; lympoid system disease [-]	An immune system disease that is located_in the ly..[+] An immune system disease that is located_in the lymphatic system. [-]
gastrointestinal system disease	digestive system disorder; alimentary system disea.. [+] digestive system disorder; alimentary system disease; Gastroenteropathy; gastrointestinal disease; gastrointestinal disorder; GIT disease [-]	A disease of anatomical entity that is located_in ..[+] A disease of anatomical entity that is located_in the gastrointestinal tract. [-]
enamel caries	Dental caries limited to enamel; primary dental ca.. [+] Dental caries limited to enamel; primary dental caries; simple dental cavity [-]	n_a
accessory nerve disease	disorder of accessory nerve (disorder); disorder o.. [+] disorder of accessory nerve (disorder); disorder of accessory [11th] nerve; disorder of 11th nerve; Eleventh nerve disorder [-]	n_a
olfactory nerve disease	disorder of olfactory nerve (disorder); disorder o.. [+] disorder of olfactory nerve (disorder); disorder of olfactory [1st] nerve; disorder of 1st nerve [-]	n_a
liver disease	disorder of liver (disorder); disorder of liver; h.. [+] disorder of liver; disorder of liver (disorder); hepatic disorder [-]	n_a
scleroderma	dermatosclerosis	A rheumatic disease that involves the abnormal gro..[+] A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. [-]
aortic disease	disorder of the aorta; disorder of the aorta (diso.. [+] disorder of the aorta; disorder of the aorta (disorder); aortic disorder [-]	An artery disease that is characterized by degener..[+] An artery disease that is characterized by degeneration of the cells composing the aortic wall. [-]
thymus gland disease	disease of thymus gland	n_a
third cranial nerve disease	disorder of oculomotor nerve; Oculomotor nerve dis.. [+] disorder of oculomotor nerve; Oculomotor nerve disorder; Third cranial nerve disease (disorder) [-]	n_a
biotinidase deficiency	deficiency of biotinidase; deficiency of biotinida.. [+] deficiency of biotinidase; deficiency of biotinidase (disorder); BTD deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency [-]	A multiple carboxylase deficiency that involves a ..[+] A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. [-]
Hartnup disease	deficiency of tryptophan oxygenase; Neutral 1 amin.. [+] deficiency of tryptophan oxygenase; Neutral 1 amino acid transport defect (disorder); neutral amino acid transport defect [-]	An amino acid metabolic disorder that is caused by..[+] An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. [-]
Fanconi syndrome	De Toni-Fanconi syndrome; deToni Fanconi syndrome; .. [+] deToni Fanconi syndrome; De Toni-Fanconi syndrome; adult Fanconi Anemia; adult Fanconi syndrome; Congenital Fanconi syndrome (disorder); Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome [-]	A renal tubular transport disease of the proximal ..[+] A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. [-]
filariasis	disease due to superfamily Filarioidea; disease du.. [+] disease due to superfamily Filarioidea; disease due to superfamily Filarioidea (disorder) [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. [-]
exotropia	Divergent Strabismus; Divergent concomitant strabi.. [+] Divergent Strabismus; Divergent concomitant strabismus [-]	n_a
transvestism	Dual-role transvestism; cross dresser; Fetishistic.. [+] Dual-role transvestism; cross dresser; Fetishistic transvestism (disorder); Transvestic fetishism; Fetishistic transvestism [-]	n_a
capillary disease	disease of capillaries	A vascular disease that is located_in the capillar..[+] A vascular disease that is located_in the capillaries. [-]
ocular motility disease	disorder of eye movements; eye movement disorder	n_a
cardiovascular system disease	disease of subdivision of hemolymphoid system	A disease of anatomical entity which occurs in the..[+] A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. [-]
neurodegenerative disease	degenerative disease; Neurodegenerative disease	A central nervous system disease that results_in t..[+] A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. [-]
paranasal sinus disease	disorder of nasal sinus	n_a
candidiasis	Disseminated candidiasis; systemic candidiasis	An opportunistic mycosis that involves fungal infe..[+] An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. [-]
cecal disease	disorder of cecum (disorder)	An intestinal disease located_in the cecum.
pleural disease	disorder of pleura; non-neoplastic pleural disease.. [+] disorder of pleura; non-neoplastic pleural disease [-]	A thoracic disease which may involve inflammation ..[+] A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. [-]

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