| Entry |
Name |
Description |
Category |
Pathway |
|
H02488
|
Cardiac-urogenital syndrome
|
Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF ...
|
Congenital malformation
|
|
|
H02489
|
Mild encephalopathy with reversible myelin vacuolization
|
Mild encephalopathy with reversible myelin vacuolization (MMERV) is a familial disorder with clinical finding of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in ...
|
Nervous system disease
|
|
|
H02490
|
Gabriele-de Vries syndrome
|
Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes.
|
Mental and behavioural disorder
|
|
|
H02491
|
Immunoskeletal dysplasia with neurodevelopmental abnormalities
|
Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency ...
|
Congenital malformation
|
|
|
H02492
|
Microcephaly, growth restriction, and increased sister chromatid exchange
|
Microcephaly, growth restriction, and increased sister chromatid exchange (MGRISCE) is characterized by prenatal onset growth restriction and microcephaly. Diagnostically, a hallmark feature is the presence ...
|
Congenital malformation
|
|
|
H02493
|
Al Kaissi syndrome
|
Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals ...
|
Congenital malformation
|
|
|
H02494
|
Alkuraya-Kucinskas syndrome
|
Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome ...
|
Congenital malformation
|
|
|
H02495
|
Congenital megabladder
|
Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this ...
|
Congenital malformation
|
|
|
H02496
|
Cerebellar, ocular, craniofacial, and genital syndrome
|
Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is an autosomal recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal ...
|
Congenital malformation
|
|
|
H02497
|
Smith-McCort dysplasia
|
Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence ...
|
Congenital malformation
|
|
|
H02498
|
Diabetic cardiomyopathy
|
Diabetic cardiomyopathy has been defined as left ventricular dysfunction that occurs among patients with diabetes mellitus independent of a recognized cause such as coronary artery disease or hypertension ...
|
Cardiovascular disease; Endocrine and metabolic disease
|
hsa05415 Diabetic cardiomyopathy
|
|
H02499
|
AL amyloidosis
Immunoglobulin light chain amyloidosis
|
Immunoglobulin light chain (AL) amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis is a disorder of plasma cells or less commonly B cells that produce misfolded immunoglobulin ...
|
Endocrine and metabolic disease
|
|
|
H02500
|
Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
|
Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit ...
|
Congenital malformation
|
|
|
H02501
|
Occipital cortical malformation
|
Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria ...
|
Congenital malformation
|
|
|
H02502
|
Joint laxity, short stature, and myopia
|
Joint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia and significant articular involvement ...
|
Congenital malformation
|
|
|
H02503
|
Richieri-Costa-Pereira syndrome
|
Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels ...
|
Congenital malformation
|
|
|
H02504
|
Gastrointestinal ulceration, recurrent, with dysfunctional platelets
|
Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers ...
|
Digestive system disease
|
|
|
H02505
|
Atherosclerosis
|
Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ...
|
Cardiovascular disease
|
hsa05417 Lipid and atherosclerosis
|
|
H02506
|
Cardioacrofacial dysplasia
|
Cardioacrofacial dysplasia (CAFD) is a congenital malformation syndrome caused by mutations in PRKACA and PRKACB, that encode the catalytic subunits of protein kinase A. Affected individuals shared an ...
|
Congenital malformation
|
|
|
H02507
|
Pilarowski-Bjornsson syndrome
|
Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense ...
|
Mental and behavioural disorder
|
|
|
H02508
|
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
|
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural ...
|
Congenital malformation
|
|
|
H02509
|
Vesicular stomatitis fever
|
Vesicular stomatitis fever is an infectious disease caused by Vesicular stomatitis virus (VSV), belonging to the genus Vesiculovirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA ...
|
Viral infectious disease
|
|
|
H02510
|
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis
|
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis (NEDFET) is caused by mutations in GTPBP1 and GTPBP2. They encode GTP-binding proteins 1 and 2, which are ...
|
Nervous system disease
|
|
|
H02511
|
Jamestown Canyon encephalitis
|
Jamestown Canyon encephalitis is a rare infectious disease characterized by acute fever, meningitis, or meningoencephalitis. It is caused by Jamestown Canyon virus (JCV), a mosquito-borne orthobunyavirus ...
|
Viral infectious disease
|
|
|
H02512
|
Cache Valley virus infection
|
Cache Valley virus infection is an infectious disease caused by Cache Valley virus (CVV), a mosquito-borne orthobunyavirus in the order Bunyavirales of -ssRNA viruses. CVV was first isolated in 1956 from ...
|
Viral infectious disease
|
|
|
H02513
|
Oculopharyngodistal myopathy
|
Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and ...
|
Musculoskeletal disease
|
|
|
H02514
|
Lacrimal duct defect
|
Lacrimal duct defect (LCDD) is a congenital disease characterized by lacrimal duct partial absence or total lacrimal duct absence. LCDD is one of the causes of epiphora in infants and adolescents. Mutations ...
|
Congenital malformation
|
|
|
H02515
|
Li-Ghorbani-Weisz-Hubshman syndrome
|
Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies ...
|
Congenital malformation
|
|
|
H02516
|
Alcoholic liver disease
|
Alcoholic liver disease (ALD) refers to the damages to the liver and its functions due to alcohol overconsumption. It ranges from simple steatosis to steatohepatitis, cirrhosis, and even hepatocellular ...
|
Digestive system disease
|
hsa04936 Alcoholic liver disease
|
|
H02517
|
Olmsted syndrome
|
Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.
|
Congenital malformation
|
|
|
H02518
|
Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
|
Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) is characterized by neonatal-onset encephalopathy, metabolic features including lactic acidosis, and brain abnormalities ...
|
Inherited metabolic disorder
|
|
|
H02519
|
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
|
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein
|
Congenital malformation
|
|
|
H02520
|
Phosphoenolpyruvate carboxykinase deficiency
|
Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular ...
|
Inherited metabolic disorder
|
|
|
H02521
|
Diets-Jongmans syndrome
|
Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes ...
|
Congenital malformation
|
|
|
H02522
|
Imagawa-Matsumoto syndrome
|
Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex ...
|
Congenital malformation
|
|
|
H02523
|
Genitourinary and/or brain malformation syndrome
|
Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental ...
|
Congenital malformation
|
|
|
H02524
|
Ataxia-pancytopenia syndrome
|
Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes ...
|
Hematologic disease
|
|
|
H02525
|
Disorders of innate immunity
|
Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune ...
|
Immune system disease
|
|
|
H02526
|
Disorders of adaptive immunity
|
T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses ...
|
Immune system disease
|
|
|
H02527
|
Lipid storage myopathy due to FLAD1 deficiency
|
Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as ...
|
Inherited metabolic disorder
|
|