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Disease	Synonyms	Description	Articles	Phenotypes
combined oxidative phosphorylation deficiency 49	COXPD49	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. [-]
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 48	COXPD48	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. [-]
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 47	COXPD47	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. [-]
combined oxidative phosphorylation deficiency 46	COXPD46	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. [-]
combined oxidative phosphorylation deficiency 43	COXPD43	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. [-]
combined oxidative phosphorylation deficiency 40	COXPD40; QRSL1-related COXPD	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. [-]
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. [-]
combined oxidative phosphorylation deficiency 41	COXPD41	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. [-]
combined oxidative phosphorylation deficiency 51	COXPD51	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. [-]
corpus callosum agenesis-abnormal genitalia syndrome	corpus callosum agenesis with abnormal genitalia; .. [+] corpus callosum agenesis with abnormal genitalia; ACC with abnormal genitalia; Proud syndrome; Proud-Levine-Carpenter syndrome; microcephaly-corpus callosum agenesis-abnormal genitalia 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. [-]
CHIME syndrome	congenital disorder of glycosylation due to PIGL d.. [+] congenital disorder of glycosylation due to PIGL deficiency; coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; neuroectodermal dysplasia, CHIME type; neuroectodermal syndrome, Zunich type; PIGL-CDG; Zunich neuroectodermal syndrome; Zunich-Kaye syndrome [-]	A syndrome characterized by colobomas, congenital ..[+] A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. [-]
combined deficiency of vitamin K-dependent clotting factors 1	VKCFD1	A hereditary combined deficiency of vitamin K-depe..[+] A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. [-]
combined deficiency of vitamin K-dependent clotting factors 2	VKCFD2	A hereditary combined deficiency of vitamin K-depe..[+] A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. [-]
chondrodysplasia with joint dislocations gPAPP type	gPAPP deficiency	An osteochondrodysplasia characterized by prenatal..[+] An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. [-]
congenital symmetric circumferential skin creases 1	CSCSC1	A multiple benign circumferential skin creases on ..[+] A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. [-]
congenital symmetric circumferential skin creases 2	CSCSC2	A multiple benign circumferential skin creases on ..[+] A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. [-]
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. [-]
combined cellular and humoral immune defects with granulomas	combined immunodeficiency with skin granulomas; co.. [+] combined immunodeficiency with skin granulomas; combined immunodeficiency with granulomatosis; combined immunodeficiency due to RAG 1/2 deficiency; CID due to RAG 1/2 deficiency; CCHIDG [-]	A combined immunodeficiency characterized by combi..[+] A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. [-]
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 2	CPPB2	A central precocious puberty that has_material_bas..[+] A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. [-]
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. [-]
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	CAKUTHED	A syndrome characterized by variable congenital an..[+] A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. [-]
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 5	CSS5	A Coffin-Siris syndrome characterized by delayed p..[+] A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. [-]
Coffin-Siris syndrome 7	CSS7	A Coffin-Siris syndrome characterized by global de..[+] A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. [-]
Coffin-Siris syndrome 12	CSS12	A Coffin-Siris syndrome characterized by global de..[+] A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. [-]
Coffin-Siris syndrome 10	CSS10	A Coffin-Siris syndrome characterized by mild to s..[+] A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. [-]
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; Rheumatic.. [+] Corrigan's disease; aortic incompetence; Rheumatic aortic regurgitation; aortic insufficiency; Rheumatic aortic valve regurgitation; aortic regurgitation; Rheumatic aortic insufficiency; rheumatic aortic valve insufficiency [-]	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; chronic rheumatic .. [+] chronic rheumatic mitral valve; chronic rheumatic mitral valve (disorder); disease of mitral valve; Rheumatic disease of mitral valve (disorder); Rheumatic mitral insufficiency; rheumatic mitral valve incompetence; Rheumatic mitral valve regurgitation; rheumatic disease of mitral valve; Rheumatic mitral valve changes; Mitral RH valve dis.; Rheumatic disease of mitral valve [-]	n_a	1 articles
degenerative disc disease	cervical disc degenerative disease; vertebral disc.. [+] cervical disc degenerative disease; vertebral disc disease; intervertebral disc degeneration; lumbar disc degeneration [-]	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; malignant bone neoplasm; maligna.. [+] CA - bone cancer; malignant bone neoplasm; malignant bone tumour; osseous tumor; bone tumour; malignant neoplasm of bone; bone neoplasm; malignant osseous tumor; neoplasm of bone [-]	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. [-]	8 articles	8 matches
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. [-]	9 articles
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 (disorder); Ca ascending colon; .. [+] Ca ascending colon; Ca ascending colon (disorder); malignant tumor of ascending colon (disorder); malignant neoplasm of right colon; malignant tumor of ascending colon [-]	n_a
hepatic flexure cancer	Ca hepatic flexure - colon; Ca hepatic flexure - c.. [+] Ca hepatic flexure - colon; Ca hepatic flexure - colon (disorder); malignant tumor of hepatic flexure (disorder); malignant tumor of hepatic flexure; malignant neoplasm of hepatic flexure [-]	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); malignant tumor of transverse colon [-]	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 lacrimal gland.. [+] carcinoma ex pleomorphic adenoma of lacrimal gland; 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 ex pleomorphic adenoma; carcinoma in ple.. [+] carcinoma ex pleomorphic adenoma; 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; Tumour of uterus; uterine tumor; malignant uterine tumor; uterus neoplasm; neoplasm of uterus [-]	A female reproductive organ cancer that is located..[+] A female reproductive organ cancer that is located_in the uterus. [-]	1 articles
restrictive cardiomyopathy	Cardiomyopathy, constrictive; primary restrictive .. [+] Cardiomyopathy, constrictive; primary restrictive cardiomyopathy (disorder); Restrictive cardiomyopathy (disorder); primary restrictive cardiomyopathy; Familial restrictive cardiomyopathy; Restrictive cardiomyopathy [-]	An intrinsic cardiomyopathy characterized by impai..[+] An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. [-]
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. [-]	2 articles
angiokeratoma	Cutaneous Angiokeratoma; Angiokeratoma (morphologi.. [+] Cutaneous Angiokeratoma; Angiokeratoma (morphologic abnormality); Angiokeratoma of skin (disorder); skin angiokeratoma; Angiokeratoma; Angiokeratoma of skin [-]	n_a
nerve compression syndrome	Compression neuropathy; Entrapment Neuropathy; ent.. [+] Compression neuropathy; Entrapment Neuropathy; entrapment neuropathy; peripheral nerve entrapment syndrome [-]	n_a

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