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Disease	Synonyms	Description	Articles	Phenotypes
congenital nystagmus 5	X-linked congenital nystagmus 5; NYS5	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 7	CHNG7; central hypothyroidism due to TRH receptor .. [+] CHNG7; central hypothyroidism due to TRH receptor deficiency; resistance to thyrotropin-releasing hormone syndrome; TRH resistance syndrome [-]	A congenital hypothyroidism characterized by norma..[+] A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. [-]
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. [-]
congenital disorder of glycosylation Icc	congenital disorder of glycosylation type Icc	A congenital disorder of glycosylation type I char..[+] A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. [-]
congenital bilateral absence of vas deferens	congenital bilateral aplasia of vas deferens; cong.. [+] congenital bilateral aplasia of vas deferens; congenital bilateral agenesis of vas deferens; CBAVD; CAVD [-]	A male infertility that is characterized by bilate..[+] A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. [-]
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. [-]
combined immunodeficiency		A primary immunodeficiency disease that involves m..[+] A primary immunodeficiency disease that involves multiple components of the immune system. [-]
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. [-]
chromosome Xp11.22 duplication syndrome	MRX17; MRX31; X-linked mental retardation 17; X-li.. [+] MRX17; MRX31; X-linked mental retardation 17; X-linked mental retardation 31; Xp11.22 microduplication syndrome [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. [-]
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	X-linked dominant chondrodysplasia, Chassaing-Laco.. [+] X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome [-]	A syndrome characterized by chondrodysplasia assoc..[+] A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. [-]
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. [-]

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