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Disease	Synonyms	Description
Cryptococcal meningitis		A fungal meningitis that has_material_basis in Crypococcus f..[+] A fungal meningitis that has_material_basis in Crypococcus fungal infection. [-]
Culler-Jones syndrome		A syndrome that is characterized by hypopituitarism (mainly ..[+] A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. [-]
Currarino syndrome	Currarino triad;	A syndrome characterized by anorectal malformations, a presa..[+] A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. [-]
Cytomegalovirus retinitis	CMV retinitis;	A retinitis that has_material_basis_in Cytomegalovirus.
D-2-hydroxyglutaric aciduria		An 2-hydroxyglutaric aciduria that involves developmental de..[+] An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. [-]
D-bifunctional protein deficiency		A peroxisomal disease characterized by, in severe cases, inf..[+] A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. [-]
D-glyceric aciduria	D-glycerate kinase deficiency; D-glyceric acidemia; D-glycer.. [+] D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; non ketotic hyperglycinemia syndrome; deficiency of glycerate kinase; [-]	An inherited metabolic disorder characterized by impaired se..[+] 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 GLYCTK on chromosome 3p21.2. [-]
D-mannitol allergy	mannitol allergy;	A drug allergy that has_allergic_trigger D-mannitol.
DIC in newborn	Disseminated intravascular coagulation in newborn; Dissemina.. [+] Disseminated intravascular coagulation in newborn; Disseminated intravascular coagulation in newborn (disorder); [-]	n_a
DMD-related dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_in mutation..[+] A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. [-]
DNA ligase IV deficiency	LIG4 Syndrome;	A combined T cell and B cell immunodeficiency that has mater..[+] A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. [-]
DOORS syndrome	autosomal recessive deafness-onychodystrophy syndrome; deafn.. [+] autosomal recessive deafness-onychodystrophy syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; deafness-onychoosteodystrophy-intellectual disability syndrome; DOOR syndrome; DOORS; [-]	A syndrome characterized by sensorineural deafness, onychody..[+] A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3. [-]
Dandy-Walker syndrome	Atresia of foramina of Magendie and Luschka;	A cerebellar disease that is characterized by hypoplasia and..[+] A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. [-]
Danon disease	ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II;	A lysosomal storage disease that is characterized by cardiom..[+] A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [-]
De Quervain disease	Radial styloid tenosynovitis; Tenosynovitis, de Quervain's;	n_a
Dent disease	Dent disease 1; Dent disease 2; Dent's disease;	A renal tubular transport disease that is characterized by ..[+] A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. [-]
Denys-Drash syndrome		A syndrome that is characterized by the association of diffu..[+] A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). [-]
Desbuquois dysplasia	micromelic dwarfism with vertebral and metaphyseal abnormali.. [+] micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; Desbuquois syndrome; [-]	An osteochondrodysplasia characterized by short stature, joi..[+] An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [-]
DiGeorge syndrome	DiGeorge sequence (disorder); Pharyngeal pouch syndrome; 22q.. [+] DiGeorge sequence (disorder); Pharyngeal pouch syndrome; 22q11.2 deletion syndrome; DiGeorge sequence; DiGeorge's syndrome; [-]	A syndrome that has_material_basis_in a large deletion of th..[+] A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. [-]
Diamond Blackfan anemia 15 with mandibulofacial dysostosis	DBA15;	A Diamond-Blackfan anemia characterized by Diamond-Blackfan ..[+] A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in RPS28 on chromosome 19p13.2. [-]
Diamond-Blackfan anemia	Blackfan - Diamond syndrome; chronic constitutional pure red.. [+] Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia; [-]	A congenital hypoplastic anemia that is characterized by ane..[+] A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. [-]
Diamond-Blackfan anemia 1	DBA1; RPS19-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS19 on chromosome 19q13.2. [-]
Diamond-Blackfan anemia 10	DBA10; RPS26-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS26 on chromosome 12q13.2. [-]
Diamond-Blackfan anemia 11	DBA11; RPL26-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL26 on chromosome 17p13.1. [-]
Diamond-Blackfan anemia 12	DBA12; RPL15-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL15 on chromosome 3p24.2. [-]
Diamond-Blackfan anemia 13	DBA13; RPS29-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS29 on chromosome 14q21.3. [-]
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	DBA14;	A Diamond-Blackfan anemia characterized by Diamond-Blackfan ..[+] A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in TSR2 on chromosome Xp11.22. [-]
Diamond-Blackfan anemia 16	DBA16; RPL27-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31. [-]
Diamond-Blackfan anemia 17	DBA17; RPS27-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3. [-]
Diamond-Blackfan anemia 18	DBA18; RPL18-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL18 on chromosome 19q13.33. [-]
Diamond-Blackfan anemia 19	DBA19; RPL35-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35 on chromosome 9q33.3. [-]
Diamond-Blackfan anemia 2	DBA2;	A Diamond-Blackfan anemia that has_material_basis_in mutatio..[+] A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. [-]
Diamond-Blackfan anemia 20	DBA20; RPS15A-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS15A on chromosome 16p12.3. [-]
Diamond-Blackfan anemia 4	DBA4; RPS17-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS17 on chromosome 15q25.2. [-]
Diamond-Blackfan anemia 5	DBA5; RPL35A-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35A on chromosome 3q29. [-]
Diamond-Blackfan anemia 6	DBA6; RPL5-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL5 on chromosome 1p22.1. [-]
Diamond-Blackfan anemia 7	DBA7; RPL11-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL11 on chromosome 1p36.11. [-]
Diamond-Blackfan anemia 8	DBA8; RPS7-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS7 on chromosome 2p25.3. [-]
Diamond-Blackfan anemia 9	DBA9; RPS10-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS10 on chromosome 6p21.31. [-]
Diamond-blackfan anemia 3	DBA3; RPS24-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_in heteroz..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS24 on chromosome 10q22.3. [-]
Dieulafoy lesion	Dieulafoy lesion (hemorrhagic) of intestine; dieulafoy lesio.. [+] Dieulafoy lesion (hemorrhagic) of intestine; dieulafoy lesion (hemorrhagic) of stomach and duodenum; [-]	n_a
Donnai-Barrow syndrome	diaphragmatic hernia-exomphalos-hypertelorism syndrome; diap.. [+] diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; faciooculoacousticorenal syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; DBS/FOAR syndrome; FOAR syndrome; [-]	A syndrome that is characterized by facial and ocular abnorm..[+] A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. [-]
Donohue syndrome	Leprechaunism;	A syndrome that is characterized by protuberant and low-set ..[+] A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. [-]
Dowling-Degos disease	dark dot disease; reticular pigment anomaly of flexures;	A pigmentation disease characterized by a reticulate pattern..[+] A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. [-]
Down syndrome	Complete trisomy 21 syndrome (disorder); Down's syndrome; G .. [+] Complete trisomy 21 syndrome (disorder); Down's syndrome; G Trisomy; trisomy 21 syndrome; Downs syndrome; Down's syndrome - trisomy 21; Complete trisomy 21 syndrome; [-]	A chromosomal disease that is characterized by flat-looking ..[+] A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. [-]
Doyne honeycomb retinal dystrophy	DHRD; Doyne honeycomb degeneration of retina;	A retinal drusen characterized by yellow-white deposits (dru..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. [-]
Dravet syndrome	SMEI; severe myoclonic epilepsy in infancy;	An epilepsy that is characterized by frequent febrile seizur..[+] An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. [-]
Dressler's syndrome	Dressler syndrome; Postmyocardial infarction syndrome (disor.. [+] Dressler syndrome; Postmyocardial infarction syndrome (disorder); Postmyocardial infarction syndrome; [-]	A pericarditis characterized by inflammation, occurring afte..[+] A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. [-]
Duane retraction syndrome	Duane's syndrome; Stilling-Turk-Duane syndrome;	n_a
Duane-radial ray syndrome	acrorenocular syndrome; DR syndrome; Okihiro syndrome; Duane.. [+] acrorenocular syndrome; DR syndrome; Okihiro syndrome; Duane anomaly with radial ray abnormalities and deafness; [-]	A syndrome characterized by upper limb anomalies, ocular ano..[+] A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. [-]

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