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Disease	Synonyms	Description
Cryptococcal meningitis		A fungal meningitis that has_material_basis in Cry..[+] A fungal meningitis that has_material_basis in Crypococcus fungal infection. [-]
Cytomegalovirus retinitis	CMV retinitis;	A retinitis that has_material_basis_in Cytomegalov..[+] A retinitis that has_material_basis_in Cytomegalovirus. [-]
D-2-hydroxyglutaric aciduria		An 2-hydroxyglutaric aciduria that involves develo..[+] 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 ..[+] 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. [-]
DIC in newborn	Disseminated intravascular coagulation in newborn;.. [+] Disseminated intravascular coagulation in newborn; Disseminated intravascular coagulation in newborn (disorder); [-]	n_a
DMD-related dilated cardiomyopathy		A dilated cardiomyopathy that has_material_basis_i..[+] 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..[+] 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. [-]
Dandy-Walker syndrome	Atresia of foramina of Magendie and Luschka;	A cerebellar disease that is characterized by hypo..[+] 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;	n_a
De Quervain disease	Radial styloid tenosynovitis; Tenosynovitis, de Qu.. [+] 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 characte..[+] 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		An autosomal dominant disease that is characterize..[+] An autosomal dominant disease 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	Desbuquois syndrome; micromelic dwarfism with vert.. [+] Desbuquois syndrome; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; [-]	An osteochondrodysplasia characterized by short st..[+] An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [-]
DiGeorge syndrome	DiGeorge sequence (disorder); DiGeorge's syndrome;.. [+] DiGeorge sequence (disorder); DiGeorge's syndrome; Pharyngeal pouch syndrome; [-]	A T cell deficiency disease that is the result of ..[+] A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. [-]
Diamond-Blackfan anemia	Blackfan - Diamond syndrome; chronic constitutiona.. [+] Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia; [-]	A congenital hypoplastic anemia that is characteri..[+] 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. [-]
Dieulafoy lesion	Dieulafoy lesion (hemorrhagic) of intestine; dieul.. [+] Dieulafoy lesion (hemorrhagic) of intestine; dieulafoy lesion (hemorrhagic) of stomach and duodenum; [-]	n_a
Donnai-Barrow syndrome	DBS/FOAR syndrome; diaphragmatic hernia, exomphalo.. [+] DBS/FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; faciooculoacousticorenal syndrome; FOAR syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; [-]	An autosomal recessive disease characterized by fa..[+] An autosomal recessive disease 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 LRP2 gene on chromosome 2q31. [-]
Donohue syndrome	Leprechaunism;	n_a
Dowling-Degos disease	dark dot disease; reticular pigment anomaly of fle.. [+] dark dot disease; reticular pigment anomaly of flexures; [-]	A pigmentation disease characterized by a reticula..[+] 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 sy.. [+] Complete trisomy 21 syndrome (disorder); Down's syndrome; Down's syndrome - trisomy 21; Downs syndrome; G Trisomy; trisomy 21 syndrome; [-]	A chromosomal disease that is characterized by fla..[+] 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 dep..[+] 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	severe myoclonic epilepsy in infancy; SMEI;	An epilepsy that is characterized by frequent febr..[+] An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. [-]
Dressler's syndrome	Dressler syndrome; Postmyocardial infarction syndr.. [+] Dressler syndrome; Postmyocardial infarction syndrome; Postmyocardial infarction syndrome (disorder); [-]	A pericarditis characterized by inflammation, occu..[+] 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; Duane anomaly.. [+] acrorenocular syndrome; DR syndrome; Duane anomaly with radial ray abnormalities and deafness; Okihiro syndrome; [-]	An autosomal dominant disease characterized by upp..[+] An autosomal dominant disease 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. [-]
Dubin-Johnson syndrome	chronic idiopathic jaundice; Dubin Johnson syndrom.. [+] chronic idiopathic jaundice; Dubin Johnson syndrome; [-]	A bilirubin metabolic disorder that involves eleva..[+] A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. [-]
Dubowitz syndrome	Dubowitz's syndrome (disorder);	A syndrome that is a rare genetic disorder charact..[+] A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. [-]
Duchenne muscular dystrophy	Muscular dystrophy, Duchenne;	A muscular dystrophy that has_material_basis_in X-..[+] A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. [-]
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. [-]
EAST syndrome	epilepsy, ataxia, sensorineural deafness and tubul.. [+] epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome; [-]	A syndrome characterize by seizures, sensorineural..[+] A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]
EEC syndrome	ectrodactyly, ectodermal dysplasia, and cleft lip-.. [+] ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; ectrodactyly-ectodermal dysplasia-clefting syndrome; Rudiger syndrome 1; Walker-Clodius syndrome; [-]	An autosomal dominant disease characterized by ect..[+] An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
Eastern equine encephalitis	EEE; Neuroinvasive Eastern equine encephalitis vir.. [+] EEE; Neuroinvasive Eastern equine encephalitis virus infection; [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. [-]
Ebola hemorrhagic fever	Ebola virus disease;	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. [-]
Ebstein anomaly	Ebstein's anomaly; Ebstein's anomaly (disorder) [A.. [+] Ebstein's anomaly; Ebstein's anomaly (disorder) [Ambiguous]; Ebstein's anomaly of common atrioventricular valve (disorder); Ebstein's anomaly of right atrioventricular valve (disorder); Ebstein's anomaly of tricuspid valve (disorder); [-]	A tricuspid valve disease that is a congenital hea..[+] A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. [-]
Edwards syndrome	Complete trisomy 18 syndrome (disorder); E3 Trisom.. [+] Complete trisomy 18 syndrome (disorder); E3 Trisomy; trisomy 18; [-]	n_a
Ehlers-Danlos syndrome	Cutis hyperelastica; elastic skin;	A collagen disease that is characterized by extrem..[+] A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. [-]
Ehlers-Danlos syndrome progeroid type	defective biosynthesis of proteodermatan sulfate; .. [+] defective biosynthesis of proteodermatan sulfate; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [-]
Ehrlich tumor carcinoma	Ehrlich's tumor;	n_a
Ellis-Van Creveld syndrome	Chondroectodermal dysplasia; Chondroectodermal dys.. [+] Chondroectodermal dysplasia; Chondroectodermal dysplasia (disorder); Ellis-van Creveld syndrome; [-]	n_a
Emery-Dreifuss muscular dystrophy	EDMD;	A muscular dystrophy that chiefly affects muscles ..[+] A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. [-]
Epstein-Barr virus hepatitis		A viral hepatitis that results_in inflammation, lo..[+] A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. [-]
Erdheim-Chester disease		n_a
Evans' syndrome		n_a
Ewing sarcoma	Ewing's family localized tumor; Ewing's sarcoma/pe.. [+] Ewing's family localized tumor; Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; Ewings sarcoma-primitive neuroectodermal tumor; localized Ewing sarcoma; localized Ewing's sarcoma; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; localized Ewing's tumor; localized peripheral primitive neuroectodermal tumor; peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region; [-]	A bone cancer that has_material_basis in neural cr..[+] A bone cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. [-]
FG syndrome	Keller syndrome; Opitz-Kaveggia syndrome;	An X-linked disease characterized by retardation, ..[+] An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [-]
FTDALS1	ALSFTD; amyotrophic lateral sclerosis and/or front.. [+] ALSFTD; amyotrophic lateral sclerosis and/or frontotemporal dementia; frontotemporal dementia and/or amyotrophic lateral sclerosis 1; frontotemporal dementia and/or motor neuron disease; FTDMND; [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [-]
FTDALS2	frontotemporal dementia and/or amyotrophic lateral.. [+] frontotemporal dementia and/or amyotrophic lateral sclerosis 2; [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [-]
FTDALS3	frontotemporal dementia and/or amyotrophic lateral.. [+] frontotemporal dementia and/or amyotrophic lateral sclerosis 3; [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. [-]
FTDALS4	frontotemporal dementia and/or amyotrophic lateral.. [+] frontotemporal dementia and/or amyotrophic lateral sclerosis 4; [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. [-]
Fabry disease	alpha galactosidase deficiency; Alpha-galactosidas.. [+] alpha galactosidase deficiency; Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; deficiency of melibiase; Fabry's disease; [-]	n_a

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