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Disease	Synonyms	Description
congenital lactase deficiency	congenital lactose malabsorption; congenital lacto.. [+] congenital lactose malabsorption; congenital lactose intolerance; congenital alactasia syndrome; congenital alactasia; CLD; disaccharide intolerance II [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. [-]
cerebellar ataxia type 41	SCA41	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. [-]
congenital nystagmus 2	congenital motor nystagmus 2; autosomal dominant c.. [+] congenital motor nystagmus 2; autosomal dominant congenital nystagmus 2; NYS2 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. [-]
congenital nystagmus 5	NYS5; X-linked congenital nystagmus 5	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. [-]
CHILD syndrome	congenital hemidysplasia with ichthyosiform nevus .. [+] congenital hemidysplasia with ichthyosiform nevus and limbs defects; CHILD nevus [-]	A syndrome characterized by congenital hemidysplas..[+] A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. [-]
congenital nongoitrous hypothyroidism 9	CHNG9	A congenital hypothyroidism characterized by a sma..[+] A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. [-]
congenital nongoitrous hypothyroidism 8	CHNG8	A congenital hypothyroidism characterized by relat..[+] A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. [-]
CK syndrome	X-linked intellectual disability-microcephaly-cort.. [+] X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome [-]	A lipid metabolism disorder characterized by incre..[+] A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. [-]
congenital megabladder	MGBL	A bladder disease characterized by a massively dil..[+] A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. [-]
combined oxidative phosphorylation deficiency 50	COXPD50	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. [-]
combined oxidative phosphorylation deficiency 45	COXPD45	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. [-]
combined oxidative phosphorylation deficiency 42	COXPD42	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. [-]
corpus callosum agenesis-abnormal genitalia syndrome	corpus callosum agenesis with abnormal genitalia; .. [+] corpus callosum agenesis with abnormal genitalia; ACC with abnormal genitalia; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; Proud syndrome; Proud-Levine-Carpenter syndrome [-]	A syndrome characterized by agenesis of the corpus..[+] A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. [-]
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13-Related Disorder; CHDFIDD; CDK13-Related CHD.. [+] CHDFIDD; CDK13-Related Disorder; CDK13-Related CHDFIDD [-]	A syndrome characterized by congenital heart defec..[+] A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. [-]
central precocious puberty	CPP; gonadotropin-dependant precocious puberty	An endocrine system disease characterized by early..[+] An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. [-]
central precocious puberty 1	CPPB1	A central precocious puberty that has_material_bas..[+] A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. [-]
craniotubular dysplasia Ikegawa type	CTDI	A craniodiaphyseal dysplasia characterized by chil..[+] A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. [-]
Coffin-Siris syndrome 8	CSS8	A Coffin-Siris syndrome characterized by variable ..[+] A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. [-]
Coffin-Siris syndrome 11	CSS11	A Coffin-Siris syndrome characterized by global de..[+] A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. [-]
aortic valve insufficiency	Corrigan's disease; aortic incompetence; aortic in.. [+] Corrigan's disease; aortic incompetence; aortic insufficiency; aortic regurgitation; Rheumatic aortic insufficiency; Rheumatic aortic regurgitation; rheumatic aortic valve insufficiency; Rheumatic aortic valve regurgitation [-]	An aortic valve disease that is characterized by l..[+] An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. [-]
mitral valve disease	chronic rheumatic mitral valve (disorder); disease.. [+] chronic rheumatic mitral valve (disorder); disease of mitral valve; 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
degenerative disc disease	cervical disc degenerative disease; intervertebral.. [+] cervical disc degenerative disease; intervertebral disc degeneration; lumbar disc degeneration; vertebral disc disease [-]	A bone deterioration disease that has_material_bas..[+] A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. [-]
heart cancer	Cardiac tumor; malignant Cardiac tumor; malignant .. [+] Cardiac tumor; malignant Cardiac tumor; malignant neoplasm of heart; Tumour of heart [-]	A cardiovascular cancer located_in the heart.
bone cancer	CA - bone cancer; bone neoplasm; bone tumour; mali.. [+] CA - bone cancer; bone neoplasm; bone tumour; malignant bone neoplasm; malignant bone tumour; malignant neoplasm of bone; malignant osseous tumor; neoplasm of bone; osseous tumor [-]	A connective tissue cancer that is located_in bone..[+] A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. [-]
reproductive organ cancer	cancer of reproductive system; malignant reproduct.. [+] cancer of reproductive system; malignant reproductive system neoplasm; Reproductive tumor [-]	An organ system cancer that is manifested in the r..[+] An organ system cancer that is manifested in the reproductive organs. [-]
heel spur	Calcaneal spur	An exostosis that results_in an abnormal growth lo..[+] An exostosis that results_in an abnormal growth located_in calcaneus. [-]
ascending colon cancer	Ca ascending colon; Ca ascending colon (disorder); .. [+] Ca ascending colon (disorder); Ca ascending colon; malignant neoplasm of right colon; malignant tumor of ascending colon (disorder) [-]	n_a
hepatic flexure cancer	Ca hepatic flexure - colon (disorder); Ca hepatic .. [+] Ca hepatic flexure - colon (disorder); Ca hepatic flexure - colon; malignant neoplasm of hepatic flexure; malignant tumor of hepatic flexure (disorder) [-]	n_a
transverse colon cancer	Ca transverse colon (disorder); Ca transverse colo.. [+] Ca transverse colon (disorder); Ca transverse colon; malignant tumor of transverse colon (disorder) [-]	n_a
lacrimal gland carcinoma	carcinoma of the lacrimal gland	n_a
eye carcinoma	carcinoma of eye; Ocular carcinoma	An ocular cancer that has_material_basis_in abnorm..[+] An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. [-]
mixed lacrimal gland cancer	carcinoma Ex Pleomorphic adenoma of the lacrimal g.. [+] carcinoma Ex Pleomorphic adenoma of the lacrimal gland; carcinoma ex pleomorphic adenoma of lacrimal gland (disorder); malignant mixed neoplasm of lacrimal gland [-]	n_a
pleomorphic adenoma carcinoma	carcinoma in pleomorphic adenoma; carcinoma ex ple.. [+] carcinoma in pleomorphic adenoma; carcinoma ex pleomorphic adenoma (morphologic abnormality) [-]	n_a
uterine cancer	CA - cancer of uterus; malignant neoplasm of uteru.. [+] CA - cancer of uterus; malignant neoplasm of uterus; malignant uterine tumor; neoplasm of uterus; Tumour of uterus; uterine tumor; uterus neoplasm [-]	A female reproductive organ cancer that is located..[+] A female reproductive organ cancer that is located_in the uterus. [-]
restrictive cardiomyopathy	Cardiomyopathy, constrictive; Familial restrictive.. [+] Cardiomyopathy, constrictive; Familial restrictive cardiomyopathy; primary restrictive cardiomyopathy (disorder); Restrictive cardiomyopathy; Restrictive cardiomyopathy (disorder) [-]	n_a
primary hyperaldosteronism	Cushing syndrome; Cushing's syndrome; hyperaldoste.. [+] Cushing's syndrome; Cushing syndrome; hyperaldosteronism [-]	An adrenal gland hyperfunction disease that result..[+] An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. [-]
angiokeratoma	Cutaneous Angiokeratoma; Angiokeratoma (morphologi.. [+] Cutaneous Angiokeratoma; Angiokeratoma (morphologic abnormality); Angiokeratoma of skin (disorder); skin angiokeratoma [-]	n_a
nerve compression syndrome	Compression neuropathy; Entrapment Neuropathy; ent.. [+] Compression neuropathy; Entrapment Neuropathy; entrapment neuropathy; peripheral nerve entrapment syndrome [-]	n_a
nephrolithiasis	calculus of kidney and ureter; kidney stones; NEPH.. [+] calculus of kidney and ureter; kidney stones; NEPHROLITHIASIS, CALCIUM OXALATE; Stone - kidney/ureter; UROLITHIASIS, CALCIUM OXALATE [-]	n_a
severe combined immunodeficiency	combined T and B cell inborn immunodeficiency; SCI.. [+] combined T and B cell inborn immunodeficiency; SCID [-]	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. [-]
urethra cancer	cancer of urethra; malignant tumour of urethra; ma.. [+] cancer of urethra; malignant tumour of urethra; malignant urethral neoplasm; urethral Ca [-]	An urinary tract cancer that derives_from the tiss..[+] An urinary tract cancer that derives_from the tissues of the urethra. [-]
situs inversus	Complete transposition (morphologic abnormality); .. [+] Complete transposition (morphologic abnormality); Laterality sequence (disorder); situs inversus viscerum (disorder) [-]	n_a
periodontitis	chronic pericementitis	n_a
Bartholin's duct cyst	Cyst of Bartholin's gland duct; Cyst of Bartholin'.. [+] Cyst of Bartholin's gland duct; Cyst of Bartholin's gland; Bartholin duct cyst; Bartholin's Cyst [-]	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. [-]
Wilson disease	Cerebral pseudosclerosis; hepatolenticular degener.. [+] Cerebral pseudosclerosis; hepatolenticular degeneration; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Wilson's disease [-]	n_a
autosomal dominant polycystic kidney disease	Congenital biliary ectasias; POLYCYSTIC KIDNEY AND.. [+] Congenital biliary ectasias; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 [-]	An autosomal dominant disease characterized by the..[+] An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. [-]
Zellweger syndrome	congenital iron overload; cerebrohepatorenal syndr.. [+] congenital iron overload; cerebrohepatorenal syndrome; peroxisome biogenesis disorder [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. [-]
alopecia areata	Circumscribed alopecia	A hypersensitivity reaction type II disease result..[+] A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. [-]
Fanconi syndrome	Congenital Fanconi syndrome (disorder); adult Fanc.. [+] Congenital Fanconi syndrome (disorder); adult Fanconi Anemia; adult Fanconi syndrome; De Toni-Fanconi syndrome; deToni Fanconi syndrome; 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. [-]
primary open angle glaucoma	chronic simple glaucoma	n_a

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