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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01003 | Dimethylglycine dehydrogenase deficiency | Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase ... | Inherited metabolic disorder | |
| H01004 | Velocardiofacial syndrome | Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive ... | Chromosomal abnormality | |
| H01005 |
Dopamine beta-hydroxylase deficiency Norepinephrine deficiency Noradrenaline deficiency |
Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series ... | Nervous system disease | |
| H01006 | Hereditary angioedema | Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema ... | Cardiovascular disease | |
| H01007 | Choroid plexus papilloma | Choroid plexus tumors (CPTs) are rare intraventricular papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric brain tumors. CPTs are ... | Nervous system disease | |
| H01008 |
C syndrome Opitz trigonocephaly syndrome |
The C syndrome/ Opitz trigonocephaly syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities ... | Congenital malformation | |
| H01009 | Newfoundland rod-cone dystrophy | Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive ... | Nervous system disease | |
| H01010 | Occult macular dystrophy | Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field ... | Nervous system disease | |
| H01011 |
Adrenocorticotropic hormone deficiency Isolated ACDH deficiency |
Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated ... | Endocrine and metabolic disease | |
| H01012 | Oculo-auricular syndrome | Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral ... | Congenital malformation | |
| H01013 | Adult i phenotype | Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids ... | Hematologic disease | |
| H01014 | Sparganosis | Human sparganosis is caused by the larval form (spargana) of the canine/feline tapeworms belonging to the genus Spirometra. A wide range of amphibians, reptiles, birds, and mammals serve as second intermediate/paratenic ... | Parasitic infectious disease | |
| H01015 | Jalili syndrome | Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed ... | Congenital malformation | |
| H01016 | Primary bile acid malabsorption | This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and ... | Digestive system disease | |
| H01017 | Choanal atresia and lymphedema | Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular ... | Congenital malformation | |
| H01018 | Metachondromatosis | Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in ... | Congenital malformation | |
| H01019 | Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular ... | Cardiovascular disease | |
| H01020 | Optic atrophy | Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion ... | Nervous system disease | |
| H01021 | Rhodococcus equi infection | Rhodococcus equi is an aerobic, gram-positive bacillus. R. equi infection is rare in humans, but it can cause potentially fatal disease in immunocompromised patients. Although the clinical spectrum of ... | Bacterial infectious disease | |
| H01022 | Diseases of the tricarboxylic acid cycle | Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate ... | Inherited metabolic disorder | |
| H01023 | Juvenile polyposis syndrome | Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline ... | Neoplasm | |
| H01024 | Hereditary mixed polyposis syndrome | Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS ... | Digestive system disease | |
| H01025 | Familial adenomatous polyposis | Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated ... | Neoplasm | |
| H01026 |
Renal coloboma syndrome Papillorenal syndrome |
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box ... | Congenital malformation | |
| H01027 | Microphthalmia | Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... | Congenital malformation | |
| H01028 |
Argininosuccinic aciduria Argininosuccinate lyase deficiency |
Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, ... | Inherited metabolic disorder | |
| H01029 | Cornea plana congenita | Cornea plana congenita is a rare hereditary anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus ... | Congenital malformation | |
| H01030 | Congenital arthrogryposis with anterior horn cell disease | Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence ... | Congenital malformation | |
| H01031 |
Orthostatic intolerance Postural tachycardia syndrome |
Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations ... | Cardiovascular disease | |
| H01032 | N-acetylglutamate synthase deficiency | N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator ... | Inherited metabolic disorder | |
| H01033 | Congenital bilateral absence of vas deferens | The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic ... | Congenital malformation | |
| H01034 | L1 syndrome | L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia ... | Congenital malformation | |
| H01035 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum ... | Congenital malformation | |
| H01036 | Posterior column ataxia with retinitis pigmentosa | Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported ... | Nervous system disease | |
| H01037 | Vesicoureteral reflux | Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent ... | Urinary system disease | |
| H01038 |
Cerebellar ataxia cayman type Cayman ataxia |
Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported ... | Nervous system disease | |
| H01039 | Ovarian hyperstimulation syndrome | Ovarian hyperstimulation syndrome (OHSS) is typically an iatrogenic complication of ovulation induction (OI) occurring during the luteal phase or early pregnancy. OHSS is characterised by a cystic enlargement ... | Reproductive system disease | |
| H01040 | Bamforth-Lazarus syndrome | Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus ... | Endocrine and metabolic disease | |
| H01041 | Aerococcus urinae infection | Aerococcus urinae is a rare pathogen that belongs to a gram-positive coccus. Most infections are mild, but fatal infections such as endocarditis and septicemia/urosepsis have also been described. | Bacterial infectious disease | |
| H01042 | Buruli ulcer | Buruli ulcer (BU) is a neglected emerging disease that has recently been reported in some countries especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ... | Bacterial infectious disease |
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