| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Donnai-Barrow syndrome
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diaphragmatic hernia-exomphalos-hypertelorism synd..
[+]diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; faciooculoacousticorenal syndrome; DBS/FOAR syndrome;
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A syndrome that is characterized by facial and ocu.. [+]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.
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Donohue syndrome
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Leprechaunism;
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A syndrome that is characterized by protuberant an.. [+]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.
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Dowling-Degos disease
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dark dot disease; reticular pigment anomaly of fle..
[+]dark dot disease; reticular pigment anomaly of flexures;
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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.
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Down syndrome
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Complete trisomy 21 syndrome (disorder); Down's sy..
[+]Complete trisomy 21 syndrome (disorder); Down's syndrome; G Trisomy; trisomy 21 syndrome; Downs syndrome; Down's syndrome - trisomy 21; Complete trisomy 21 syndrome;
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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.
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6 articles
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Doyne honeycomb retinal dystrophy
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DHRD; Doyne honeycomb degeneration of retina;
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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.
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Dravet syndrome
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DEE6; developmental and epileptic encephalopathy 6..
[+]DEE6; developmental and epileptic encephalopathy 6; early infantile epileptic encephalopathy 6; severe myoclonic epilepsy of infancy; DEE6A; developmental and epileptic encephalopathy 6A;
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A developmental and epileptic encephalopathy chara.. [+]A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
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Dressler's syndrome
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Dressler syndrome; Postmyocardial infarction syndr..
[+]Dressler syndrome; Postmyocardial infarction syndrome (disorder); Postmyocardial infarction syndrome;
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A pericarditis characterized by inflammation, occu.. [+]A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
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Duane retraction syndrome
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Duane's syndrome; Stilling-Turk-Duane syndrome;
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n_a
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Duane-radial ray syndrome
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acrorenocular syndrome; DR syndrome; Okihiro syndr..
[+]acrorenocular syndrome; DR syndrome; Okihiro syndrome; Duane anomaly with radial ray abnormalities and deafness;
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A syndrome characterized by upper limb anomalies, .. [+]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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Dubin-Johnson syndrome
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Dubin Johnson syndrome; chronic idiopathic jaundic..
[+]Dubin Johnson syndrome; chronic idiopathic jaundice;
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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.
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Dubowitz syndrome
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Dubowitz's syndrome (disorder); Dubowitz's syndrom..
[+]Dubowitz's syndrome (disorder); Dubowitz's syndrome;
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A syndrome that is characterized by microcephaly, .. [+]A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
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Duchenne muscular dystrophy
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Muscular dystrophy, Duchenne;
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A muscular dystrophy that has_material_basis_in X-.. [+]A muscular dystrophy that has_material_basis_in X-linked 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.
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1 articles
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Dyggve-Melchior-Clausen disease
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DMC disease; pseudo-Morquio disease type I;
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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.
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EAST syndrome
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epilepsy, ataxia, sensorineural deafness and tubul..
[+]epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance;
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A syndrome characterized by seizures, sensorineura.. [+]A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
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4 articles
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EEC syndrome
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ectrodactyly, ectodermal dysplasia, and cleft lip-..
[+]ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; Walker-Clodius syndrome; Rudiger syndrome 1; ectrodactyly-ectodermal dysplasia-clefting syndrome;
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A syndrome characterized by ectrodactyly, ectoderm.. [+]A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
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EWSR1-negative small round cell tumor
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EWSR1-Negative Small Blue Round Cell Tumor;
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A small cell sarcoma that is characterized by the .. [+]A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
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EZB diffuse large B-cell lymphoma
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EZB DLBCL;
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A diffuse large B-cell lymphoma that is categorize.. [+]A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
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EZB-MYC+ diffuse large B-cell lymphoma
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EZB-MYC+ DLBCL;
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An EZB diffuse large B-cell lymphoma that expresse.. [+]An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
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EZB-MYC- diffuse large B-cell lymphoma
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EZB-MYC- DLBCL;
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An EZB diffuse large B-cell lymphoma that does not.. [+]An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.
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Eastern equine encephalitis
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EEE; Neuroinvasive Eastern equine encephalitis vir..
[+]EEE; Neuroinvasive Eastern equine encephalitis virus infection;
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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.
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1 articles
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Ebola hemorrhagic fever
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Ebola virus disease;
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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.
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Ebstein anomaly
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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); Ebstein's anomaly of common atrioventricular valve; Ebstein's anomaly of right atrioventricular valve; Ebstein's anomaly of tricuspid valve;
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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.
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Edwards syndrome
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Complete trisomy 18 syndrome (disorder); E3 Trisom..
[+]Complete trisomy 18 syndrome (disorder); E3 Trisomy; Complete trisomy 18 syndrome; trisomy 18;
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A chromosomal duplciation syndrome that is charact.. [+]A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
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Ehlers-Danlos syndrome
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Cutis hyperelastica; elastic skin;
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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.
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2 articles
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24 matches
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Ehlers-Danlos syndrome arthrochalasia type 1
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.
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Ehlers-Danlos syndrome arthrochalasia type 2
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An Ehlers-Danlos syndrome that has_material_basis_.. [+]An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
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Ehlers-Danlos syndrome classic type 1
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Ehlers-Danlos syndrome, type 1 (disorder); type I ..
[+]Ehlers-Danlos syndrome, type 1 (disorder); type I Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 1;
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
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Ehlers-Danlos syndrome classic-like 1
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.
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Ehlers-Danlos syndrome dermatosparaxis type
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.
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Ehlers-Danlos syndrome hypermobility type
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Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-..
[+]Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-Danlos syndrome, type 3; type III Ehlers-Danlos syndrome;
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
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Ehlers-Danlos syndrome kyphoscoliotic type 2
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
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Ehlers-Danlos syndrome musculocontractural type 2
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
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Ehlers-Danlos syndrome periodontal type 1
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An Ehlers-Danlos syndrome that is characterized by.. [+]An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.
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Ehlers-Danlos syndrome periodontal type 2
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An Ehlers-Danlos syndrome that has_material_basis_.. [+]An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.
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Ehlers-Danlos syndrome spondylodysplastic type 2
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XGPT deficiency; xylosylprotein 4-beta-galactosylt..
[+]XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; defective biosynthesis of proteodermatan sulfate; Ehlers-Danlos syndrome progeroid type;
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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.
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Ehlers-Danlos syndrome spondylodysplastic type 3
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An Ehlers-Danlos syndrome that has_material_basis_.. [+]An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.
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Ehrlich tumor carcinoma
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Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich..
[+]Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich's tumour;
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n_a
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Eiken syndrome
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bone modeling defect of hands and feet; Eiken skel..
[+]bone modeling defect of hands and feet; Eiken skeletal dysplasia;
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A bone development disease characterized by severe.. [+]A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
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Ellis-Van Creveld syndrome
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Chondroectodermal dysplasia (disorder); mesoectode..
[+]Chondroectodermal dysplasia (disorder); mesoectodermal dysplasia; Chondroectodermal dysplasia; Ellis-van Creveld syndrome;
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A syndrome characterized by short limbs, short rib.. [+]A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
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Elsahy-Waters syndrome
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branchioskeletogenital syndrome;
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A syndrome that is characterized by brachycephaly,.. [+]A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.
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Emery-Dreifuss muscular dystrophy
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EDMD;
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A muscular dystrophy that chiefly affects muscles .. [+]A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
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4 articles
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Epstein-Barr virus hepatitis
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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.
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Epstein-Barr virus infectious disease
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EBV Infection; Epstein-Barr virus infection (disor..
[+]EBV Infection; Epstein-Barr virus infection (disorder); Tumor Virus Infections; Epstein-Barr virus infection;
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A viral infectious disease that has_material_basis.. [+]A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4.
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Erdheim-Chester disease
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A non-Langerhans-cell histiocytosis that is charac.. [+]A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
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Evans' syndrome
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n_a
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Ewing sarcoma
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Ewing's sarcoma/peripheral primitive neuroectoderm..
[+]Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; localized Ewing's tumor; localized peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region; Ewing's family localized tumor; localized Ewing sarcoma; peripheral primitive neuroectodermal tumor; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewings sarcoma-primitive neuroectodermal tumor; localized Ewing's sarcoma;
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A connective tissue cancer that has_material_basis.. [+]A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
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Ewing sarcoma of bone
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bone Ewing's sarcoma; bone localized Ewing sarcoma..
[+]bone Ewing's sarcoma; bone localized Ewing sarcoma; bone localized Ewing's sarcoma; localized Skeletal Ewing's sarcoma; Skeletal Ewing's tumor; bone Ewing sarcoma; Ewing's sarcoma of bone; Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor;
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A peripheral primitive neuroectodermal tumor that .. [+]A peripheral primitive neuroectodermal tumor that is located_in bone.
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FG syndrome
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Keller syndrome; Opitz-Kaveggia syndrome;
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A syndrome characterized by retardation, hyperacti.. [+]A syndrome 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.
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Fabry disease
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Alpha-galactosidase A deficiency; Angiokeratoma Co..
[+]Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; alpha galactosidase deficiency; Fabry's disease; deficiency of melibiase; Fabry Disease, Cardiac Variant;
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A sphingolipidosis that is characterized by the bu.. [+]A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
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Fanconi anemia
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Fanconi panmyelopathy; Fanconi pancytopenia; Fanco..
[+]Fanconi panmyelopathy; Fanconi pancytopenia; Fanconi anaemia; Fanconi's anaemia; Fanconi's anemia;
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A congenital hypoplastic anemia characterized by p.. [+]A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
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13 articles
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