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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 hsa00310 Lysine degradation
H01248 Erythrocyte lactate transporter defect Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. The patient was found to have a missense mutation in monocarboxylate ... Musculoskeletal disease
H01249 Ethylmalonic encephalopathy Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is is characterized by early onset of neurological degeneration, chronic diarrhea ... Inherited metabolic disease
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 hsa04010 MAPK signaling pathway
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 hsa04150 mTOR signaling pathway
hsa04910 Insulin signaling pathway
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 ... Hematologic disease hsa04977 Vitamin digestion and absorption
hsa04978 Mineral absorption
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 disease hsa04080 Neuroactive ligand-receptor interaction
hsa04912 GnRH signaling pathway
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 hsa04610 Complement and coagulation cascades
H01255 Juvenile-onset dystonia Juvenile-onset dystonia is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB ... Congenital malformation hsa04145 Phagosome
hsa04510 Focal adhesion
hsa04520 Adherens junction
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
hsa04810 Regulation of actin cytoskeleton
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 disease hsa00250 Alanine, aspartate and glutamate metabolism
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 hsa04270 Vascular smooth muscle contraction
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 ... Kidney disease hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
hsa04810 Regulation of actin cytoskeleton
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 disease hsa04973 Carbohydrate digestion and absorption
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 disease hsa00340 Histidine metabolism
hsa00670 One carbon pool by folate
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; Liver 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 disease hsa00830 Retinol metabolism
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 disease hsa00010 Glycolysis / Gluconeogenesis
hsa00071 Fatty acid degradation
hsa00471 D-Glutamine and D-glutamate metabolism
hsa02010 ABC transporters
hsa04910 Insulin signaling pathway
hsa04930 Type II diabetes mellitus
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 disease
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 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 disease hsa04975 Fat digestion and absorption
hsa04977 Vitamin digestion and absorption
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 hsa04540 Gap junction
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 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 gene cause ... Endocrine disease hsa04114 Oocyte meiosis
hsa04510 Focal adhesion
hsa04520 Adherens junction
hsa04730 Long-term depression
hsa04914 Progesterone-mediated oocyte maturation
H01275 Interleukin 1 receptor antagonist deficiency (DIRA)
Multifocal osteomyelitis with periostitis and pustulosis (OMPP)
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
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 ... Gastrointestinal disease hsa04010 MAPK signaling pathway
hsa04510 Focal adhesion
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 hsa04977 Vitamin digestion and absorption
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 disease hsa00280 Valine, leucine and isoleucine degradation
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 disease hsa00650 Butanoate metabolism
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 ... Congenital malformation hsa00100 Steroid biosynthesis
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 disease hsa00410 beta-Alanine metabolism
hsa00640 Propanoate metabolism
hsa04146 Peroxisome
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