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Disease	Synonyms	Description	Articles
dilated cardiomyopathy 1EE	CMD1EE	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. [-]
dilated cardiomyopathy 1S	CMD1S	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. [-]
dilated cardiomyopathy 1U	CMD1U	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. [-]
dilated cardiomyopathy 1R	CMD1R	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. [-]
dilated cardiomyopathy 1Y	CMD1Y	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. [-]
dilated cardiomyopathy 1BB	CMD1BB	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. [-]
dilated cardiomyopathy 1FF	CMD1FF	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. [-]
dilated cardiomyopathy 2A	CMD2A	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. [-]
delayed sleep phase syndrome	DSPD	A sleep disorder characterized by an extreme eveni..[+] A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. [-]
Dyggve-Melchior-Clausen disease	DMC disease; pseudo-Morquio disease type I	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. [-]
distal myopathy with anterior tibial onset	distal muscular dystrophy with anterior tibial ons.. [+] distal muscular dystrophy with anterior tibial onset; DMAT [-]	A distal myopathy that is characterized by onset a..[+] A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. [-]
distal myopathy 3	distal muscular dystrophy 3; distal myopathy type .. [+] distal muscular dystrophy 3; distal myopathy type 3; distal myopathy 3; MPD3 [-]	A distal myopathy that is characterized by adult o..[+] A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. [-]
distal myopathy 4	distal muscular dystrophy 4; distal myopathy with .. [+] distal muscular dystrophy 4; distal myopathy with posterior leg and anterior hand involvement; distal myopathy 4; distal ABD-filaminopathy; MPD4 [-]	A distal myopathy that has_material_basis_in heter..[+] A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. [-]
distal myopathy Tateyama type	distal muscular dystrophy Tateyama type	A distal myopathy that has_material_basis_in heter..[+] A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. [-]
dominant optic atrophy plus syndrome	DOA+; optic atrophy with or without deafness, opht.. [+] DOA+; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [-]	A syndrome characterized by visual loss and sensor..[+] A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
dermatopathia pigmentosa reticularis	DPR	An ectodermal dysplasia characterized by reticulat..[+] An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. [-]
dehydrated hereditary stomatocytosis	hereditary xerocytosis; hereditary desiccytosis	A hemolytic anemia characterized by altered intrac..[+] A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. [-]
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. [-]
dehydrated hereditary stomatocytosis 2	desiccytosis Gardos; xerocytosis Gardos	A dehydrated hereditary stomatocytosis that has_ma..[+] A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. [-]
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; Malouf syndrome; Najjar syndrome; genital anomaly with cardiomyopathy [-]	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 10	DA10; short Achilles tendon; short tendo calcaneus.. [+] DA10; short Achilles tendon; short tendo calcaneus; plantar flexion contracture [-]	A distal arthrogryposis that has_material_basis_in..[+] A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. [-]
distal arthrogryposis type 5D	distal arthrogryposis type 5 without ophthalmopleg.. [+] distal arthrogryposis type 5 without ophthalmoplegia; distal arthrogryposis type 5 without ophthalmoparesis; DA5D [-]	A distal arthrogryposis characterized by severe ca..[+] A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. [-]
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 1A	DA1A	A distal arthrogryposis type 1 that has_material_b..[+] A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. [-]
distal arthrogryposis type 1B	DA1B	A distal arthrogryposis type 1 that has_material_b..[+] A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. [-]
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 2B1	DA2B1	A distal arthrogryposis type 2B that has_material_..[+] A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. [-]
distal arthrogryposis type 2B2	DA2B2	A distal arthrogryposis type 2B that has_material_..[+] A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. [-]
distal arthrogryposis type 2B3	distal arthrogryposis type 2B3 (Sheldon-Hall); DA2.. [+] distal arthrogryposis type 2B3 (Sheldon-Hall); DA2B3 [-]	A distal arthrogryposis type 2B that has_material_..[+] A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. [-]
distal arthrogryposis type 7	DA7; Dutch-Kentucky syndrome; Hecht syndrome; Hech.. [+] Dutch-Kentucky syndrome; DA7; Hecht syndrome; Hecht-Beals syndrome; mouth, inability to completely open, and short finger-flexor tendons; trismus-pseudocamptodactyly syndrome [-]	A distal arthrogryposis characterized by inability..[+] A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. [-]
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. [-]
distal arthrogryposis type 5	distal arthrogryposis type IIB; distal arthrogrypo.. [+] distal arthrogryposis type IIB; distal arthrogryposis with ophthalmoplegia; DAIIB; DA5; oculomelic amyoplasia; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. [-]
distal arthrogryposis type 6	DA6; familial hand abnormality and sensori-neural .. [+] DA6; familial hand abnormality and sensori-neural deafness; arthrogryposis-like hand anomaly-sensorineural deafness syndrome; arthrogryposis and sensorineural deafness [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. [-]
distal arthrogryposis type 4	DA4; distal arthrogryposis type IID; DAIID; arthro.. [+] DAIID; distal arthrogryposis type IID; DA4; arthrogryposis-severe scoliosis syndrome [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. [-]
D-glyceric aciduria	deficiency of glycerate kinase; D-glycericacidemia.. [+] deficiency of glycerate kinase; D-glycericacidemia; D-glyceric acidemia; D-glycerate kinase deficiency; non ketotic hyperglycinemia syndrome [-]	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. [-]
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. [-]
dihydropyrimidinase deficiency	DPH deficiency; DPYSD; DPYS deficiency; dihydropyr.. [+] DPYS deficiency; DPYSD; DPH deficiency; dihydropyrimidinuria [-]	A pyrimidine metabolic disorder characterized by a..[+] A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. [-]
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. [-]	1 articles
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 6	DBA6; RPL5-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 RPL5 gene on chromosome 1p22.1. [-]
Diamond-Blackfan anemia 17	DBA17; RPS27-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 RPS27 gene on chromosome 1q21.3. [-]
Diamond-Blackfan anemia 8	DBA8; RPS7-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 RPS7 gene on chromosome 2p25.3. [-]
Diamond-Blackfan anemia 12	DBA12; RPL15-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 RPL15 gene on chromosome 3p24.2. [-]
Diamond-Blackfan anemia 5	DBA5; RPL35A-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 RPL35A gene on chromosome 3q29. [-]
Diamond-Blackfan anemia 9	DBA9; RPS10-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 RPS10 gene on chromosome 6p21.31. [-]
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 19	DBA19; RPL35-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 RPL35 gene on chromosome 9q33.3. [-]
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 10	DBA10; RPS26-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 RPS26 gene on chromosome 12q13.2. [-]

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