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Entry Name Description Category Pathway
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 hsa00350 Tyrosine metabolism
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 ... Vascular disease hsa04610 Complement and coagulation cascades
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 hsa04010 MAPK signaling pathway
hsa04110 Cell cycle
hsa04115 p53 signaling pathway
hsa04210 Apoptosis
hsa04310 Wnt signaling pathway
hsa04722 Neurotrophin signaling pathway
hsa05200 Pathways in cancer
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 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 hsa00601 Glycosphingolipid biosynthesis - lacto and neolacto series
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 ... Infectious disease
H01015 Jalili syndrome Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putative metal transporter that expressed ... Nervous system disease
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 ... Gastrointestinal disease hsa04976 Bile secretion
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 hsa04630 JAK-STAT signaling pathway
hsa04650 Natural killer cell mediated cytotoxicity
hsa04670 Leukocyte transendothelial migration
hsa04722 Neurotrophin signaling pathway
hsa04920 Adipocytokine signaling pathway
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 hsa04020 Calcium signaling pathway
hsa04261 Adrenergic signaling in cardiomyocytes
hsa04260 Cardiac muscle contraction
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 ... 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 ... Metabolic disease hsa00020 Citrate cycle (TCA cycle)
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 ... Gastrointestinal disease hsa04060 Cytokine-cytokine receptor interaction
hsa04350 TGF-beta signaling pathway
hsa04110 Cell cycle
hsa04310 Wnt signaling pathway
hsa04520 Adherens junction
hsa05200 Pathways in cancer
hsa05210 Colorectal cancer
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 ... Gastrointestinal disease hsa04060 Cytokine-cytokine receptor interaction
hsa04350 TGF-beta signaling pathway
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 ... Gastrointestinal disease hsa04310 Wnt signaling pathway
hsa04810 Regulation of actin cytoskeleton
hsa05200 Pathways in cancer
hsa05210 Colorectal cancer
hsa03410 Base excision repair
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 disease hsa00220 Arginine biosynthesis
hsa00250 Alanine, aspartate and glutamate metabolism
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 hsa04721 Synaptic vesicle cycle
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 disease hsa00220 Arginine biosynthesis
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 hsa02010 ABC transporters
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 hsa04360 Axon guidance
hsa04514 Cell adhesion molecules
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 hsa04310 Wnt signaling pathway
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 hsa04080 Neuroactive ligand-receptor interaction
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 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. 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 ... Infectious disease
H01043 Onchocerciasis
River blindness
Robles disease
Human onchocerciasis is an infection caused by the filarial nematode Onchocerca volvulus transmitted by Simulium blackflies. The disease is endemic in sub-Saharan African countries, the Arabian peninsula ... Infectious disease
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