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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01244 | T+B+Severe combined immunodeficiencies (SCIDs) | Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological ... | Primary immunodeficiency | |
| H01245 | Immunodeficiency without anhidrotic ectodermal dysplasia | A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal ... | Primary immunodeficiency | |
| H01246 |
Isolated congenital nail clubbing Isolated congenital digital clubbing |
Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the ... | Congenital malformation | |
| H01247 | Pyridoxine-dependent epilepsy | Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance ... | Nervous system disease | |
| H01248 | Monocarboxylate transporter 1 deficiency | Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. Patients were found to have missense mutations in monocarboxylate ... | Inherited metabolic disorder | |
| H01249 | Ethylmalonic encephalopathy | Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent ... | Inherited metabolic disorder | |
| H01250 | Hereditary gingival fibromatosis | Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular ... | Digestive system disease | |
| H01251 |
Focal cortical dysplasia of Taylor Focal cortical dysplasia type II |
Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons ... | Congenital malformation | |
| H01252 | Hereditary folate malabsorption | Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption. HFM is characterized by anemia, hypoimmunoglobulinemia, and recurrent infections ... | Inherited metabolic disorder | |
| H01253 | Isolated follicle-stimulating hormone deficiency | Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility ... | Endocrine and metabolic disease | |
| H01254 | Congenital prothrombin deficiency | Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated ... | Hematologic disease | |
| H01255 |
Juvenile-onset dystonia Dystonia-deafness syndrome 1 |
Juvenile-onset dystonia, also known as Dystonia-deafness syndrome 1 (DDS1), is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation ... | Congenital malformation | |
| H01256 | Foveal hypoplasia | Foveal hypoplasia (FVH) is characterized by absence or abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It ... | Nervous system disease | |
| H01257 |
GABA-transaminase deficiency 4-Aminobutyrate aminotransferase deficiency |
GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures ... | Inherited metabolic disorder | |
| H01258 | Generalized epilepsy and paroxysmal dyskinesia | Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling ... | Nervous system disease | |
| H01259 | Giant axonal neuropathy | Giant axonal neuropathy is a disorder that shows giant axons, caused by accumulation of neurofilaments. Giant axonal neuropathy 1 (GAN1) is autosomal recessively inherited and caused by mutations in GAN ... | Neurodegenerative disease | |
| H01260 | Glomerulopathy with fibronectin deposits | Glomerulopathy with fibronectin deposits (GFND) is a hereditary kidney disease with proteinuria, microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade ... | Urinary system disease | |
| H01261 | Congenital glucose-galactose malabsorption | Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal ... | Inherited metabolic disorder | |
| H01262 | Formiminotransferase deficiency | Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of ... | Inherited metabolic disorder | |
| H01263 |
Progressive cardiac conduction defect (PCCD) Progressive familial heart block (PFHB) Lenegre-Lev disease |
Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular ... | Cardiovascular disease | |
| H01264 | Hepatic venoocclusive disease with immunodeficiency | Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear ... | Immune system disease | |
| H01265 | Hydrolethalus syndrome | Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures ... | Congenital malformation | |
| H01266 | Hypercarotenemia and vitamin A deficiency | Hypercarotenemia and vitamin A deficiency is caused by mutation in the CMO1(BCMO1) gene, that catalyzes the first step in the conversion of dietary provitamin A carotenoids to vitamin A. Vitamin A is essential ... | Inherited metabolic disorder | |
| H01267 | Familial hyperinsulinemic hypoglycemia | Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects ... | Inherited metabolic disorder | |
| H01268 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HHH syndrome |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy ... | Inherited metabolic disorder | |
| H01269 | Congenital hyperthyroidism | Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating ... | Endocrine and metabolic disease | |
| H01270 | Familial hypobetalipoproteinemia | Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein ... | Inherited metabolic disorder | |
| H01271 |
Hypoparathyroidism with sensorineural deafness and renal dysplasia HDR syndrome Barakat syndrome |
Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations ... | Congenital malformation | |
| H01272 | Hypoplastic left heart syndrome | Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis ... | Congenital malformation | |
| H01273 |
Autosomal dominant keratitis Hereditary keratitis |
Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene ... | Nervous system disease | |
| H01274 |
Growth delay due to insulin-like growth factor I resistance IGF-I resistance |
Growth delay due to IGF-I resistance (IGF1RES) is characterised by variable prenatal and postnatal growth retardation and elevated serum IGF-I levels. It has been described that the defects in the IGF-IR ... | Endocrine and metabolic disease | |
| H01275 |
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis with periostitis and pustulosis |
Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows ... | Immune system disease | |
| H01276 |
Chronic idiopathic intestinal pseudo-obstruction CIIP |
Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal ... | Digestive system disease | |
| H01277 | Vitamin B12 deficiency anaemia | Vitamin B12 deficiency anaemia is caused by intestinal malabsorption of cobalamin. Imerslund-Grasbeck syndrome (IGS) is an autosomal recessive disorder characterized by juvenile megaloblastic anaemia and ... | Hematologic disease | |
| H01278 | Iron-refractory iron deficiency anemia | Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone ... | Hematologic disease | |
| H01279 | Isobutyryl-CoA dehydrogenase deficiency | Isobutyryl-CoA dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause ... | Inherited metabolic disorder | |
| H01280 | L-2-hydroxyglutaric aciduria | L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy | Inherited metabolic disorder | |
| H01281 | Lathosterolosis | Lathosterolosis is an inborn error of cholesterol biosynthesis caused by mutations in SC5D gene encoding lathosterol 5-desaturase. It is characterized by a complex phenotype, including multiple congenital ... | Inherited metabolic disorder | |
| H01282 | Spermatogenic failure | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... | Reproductive system disease | |
| H01283 | Malonyl-CoA decarboxylase deficiency | Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) ... | Inherited metabolic disorder |
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