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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00242 | Liddle syndrome | Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the ... | Cardiovascular disease | |
| H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders ... | Urinary system disease | |
| H00244 | Pseudohypoparathyroidism | Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype ... | Endocrine and metabolic disease | |
| H00245 | Calcium sensing receptor (CASR) related disease | The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function ... | Inherited metabolic disorder | |
| H00246 |
Primary hyperparathyroidism Familial hyperparathyroidism |
Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or ... | Endocrine and metabolic disease | |
| H00247 |
Multiple endocrine neoplasia syndrome Wermer syndrome Sipple syndrome |
Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely ... | Cancer | |
| H00248 | Analbuminemia | Congenital analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin. Congenital analbuminemia is caused by mutations in the ... | Endocrine and metabolic disease | |
| H00249 | Thyroid hormone resistance syndrome | Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations ... | Endocrine and metabolic disease | |
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) | Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential ... | Endocrine and metabolic disease | |
| H00251 |
Thyroid dyshormonogenesis Dyshormogenetic goiter |
Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects ... | Endocrine and metabolic disease | |
| H00252 | Congenital nephrogenic diabetes insipidus | Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin. | Urinary system disease | |
| H00253 |
Neurohypophyseal diabetes insipidus Central diabetes insipidus |
Neurohypophyseal diabetes insipidus (NDI), also known as central diabetes insipidus, is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted ... | Endocrine and metabolic disease | |
| H00254 |
Growth hormone deficiency Pituitary dwarfism |
Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... | Endocrine and metabolic disease | |
| H00255 | Hypogonadotropic hypogonadism | Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either ... | Endocrine and metabolic disease | |
| H00256 | Familial glucocorticoid deficiency | Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within ... | Endocrine and metabolic disease | |
| H00257 |
Achalasia Addisonianism Alacrima syndrome Triple A syndrome Allgrove syndrome |
Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability ... | Endocrine and metabolic disease | |
| H00258 |
Aldosterone synthase deficiency Corticosterone methyloxidase type I deficiency Corticosterone methyloxidase type II deficiency |
Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone ... | Endocrine and metabolic disease | |
| H00259 |
Apparent mineralocorticoid excess syndrome 11-beta-ketoreductase deficiency |
Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which ... | Endocrine and metabolic disease | |
| H00260 | Pigmented micronodular adrenocortical disease | Primary pigmented micronodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in endogenous Cushing's syndrome. | Endocrine and metabolic disease | |
| H00261 |
Meckel syndrome Meckel-Gruber syndrome |
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet. | Congenital malformation | |
| H00262 | Neural tube defects, folate-sensitive | Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status ... | Congenital malformation | |
| H00263 | Acrocallosal syndrome | Acrocallosal syndrome (ACLS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation. | Congenital malformation | |
| H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... | Neurodegenerative disease | |
| H00265 | Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly ... | Nervous system disease | |
| H00266 | Hereditary spastic paraplegia | Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. | Nervous system disease | |
| H00267 | Holoprosencephaly | Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides. | Congenital malformation | |
| H00268 | Lissencephaly | Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. | Congenital malformation | |
| H00269 | Primary microcephaly | Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume. | Congenital malformation | |
| H00270 | Periventricular nodular heterotopia | Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along ... | Congenital malformation | |
| H00271 | Polymicrogyria | Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination. | Congenital malformation | |
| H00272 | Multiple sulfatase deficiency | Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal ... | Inherited metabolic disorder, Lysosomal disease | |
| H00273 | Pycnodysostosis | Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis ... | Inherited metabolic disorder, Lysosomal disease | |
| H00274 | Papillon-Lefevre syndrome | Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its ... | Inherited metabolic disorder, Lysosomal disease | |
| H00275 | Cystinosis | Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal ... | Inherited metabolic disorder, Lysosomal disease | |
| H00276 |
Galactosialidosis Neuraminidase deficiency with beta-galactosidase deficiency |
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase ... | Inherited metabolic disorder, Lysosomal disease | |
| H00277 | Enterohemorrhagic Escherichia coli (EHEC) infection | Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred ... | Bacterial infectious disease | hsa05130 Pathogenic Escherichia coli infection |
| H00278 | Enteropathogenic Escherichia coli (EPEC) infection | Enteropathogenic Escherichia coli (EPEC) was the first pathotype of E. coli identified in the 1940s, and remains a common cause of infantile diarrhea in developing countries. EPEC and EHEC [DS:H00277] ... | Bacterial infectious disease | hsa05130 Pathogenic Escherichia coli infection |
| H00279 | Uropathogenic Escherichia coli (UPEC) infection | Uropathogenic Escherichia coli (UPEC) infection is a prevalent infectious disease with potentially severe complications. UPEC, the most common etiological agent of community-acquired urinary tract infections ... | Bacterial infectious disease | |
| H00280 | Enterotoxigenic Escherichia coli (ETEC) infection | Enterotoxigenic Escherichia coli (ETEC) infection is one of the main causes of infantile diarrhea in developing countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize ... | Bacterial infectious disease | |
| H00281 | GM1 gangliosidosis | GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues ... | Inherited metabolic disorder, Lysosomal disease |
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