Search Result |
Top |
| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01767 | Henoch-Schonlein purpura nephritis | Henoch-Schonlein purpura nephritis (HSPN) is a rare kidney disease leading to chronic kidney disease in a non-negligible percentage of patients. Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] ... | Immune system disease; Urinary system disease | |
| H01768 | Central areolar choroidal dystrophy | Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the ... | Nervous system disease | |
| H01769 | ZTTK syndrome | ZTTK syndrome is an intellectual disability syndrome characterized by intellectual disability and/or developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal ... | Congenital malformation | |
| H01770 | Macular dystrophy | The inherited macular dystrophies are characterized by bilateral visual loss and the finding of generally symmetrical macular abnormalities visible either on ophthalmoscopy or on retinal angiographs. | Nervous system disease | |
| H01771 | Congenital ichthyosis | The ichthyoses represent a large group of cutaneous disorders linked by the common finding of abnormal epidermal differentiation. These disorders are characterized by the cutaneous scaling, which is said ... | Congenital malformation | |
| H01772 |
Adrenal hypoplasia, congenital X-linked addison disease |
Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive ... | Endocrine and metabolic disease | |
| H01773 |
4p deletion syndrome Wolf-Hirschhorn syndrome |
4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome ... | Chromosomal abnormality | |
| H01774 | Hyperostosis corticalis generalisata | Hyperostosis corticalis generalisata is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. Autosomal recessive hyperostosis corticalis ... | Musculoskeletal disease | |
| H01775 |
PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females |
PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively ... | Nervous system disease | |
| H01776 | Aicardi syndrome | Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. Along with agenesis of corpus callosum ... | Congenital malformation | |
| H01777 | Schwartz-Jampel syndrome | Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied ... | Nervous system disease; Musculoskeletal disease | |
| H01778 |
Ullrich disease Ullrich congenital muscular dystrophy |
Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility ... | Nervous system disease; Musculoskeletal disease | |
| H01779 | Neuroferritinopathy | Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the ... | Neurodegenerative disease | |
| H01780 | Non-dystrophic myotonia | Non-dystrophic myotonias are rare diseases caused by mutations in key skeletal muscle ion channels. The major clinical manifestation is muscle stiffness as a consequence of the myotonia. Additional common ... | Nervous system disease; Musculoskeletal disease | |
| H01781 | Autophagic vacuolar myopathy | Autophagic vacuolar myopathies (AVM) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. They are characterized ... | Nervous system disease; Musculoskeletal disease | |
| H01782 | Eosinophilic gastrointestinal disorder | Eosinophilic gastrointestinal disorder (EGID) is a disorder characterised by eosinophilic infiltration of the gastrointestinal tract. The most common form of EGID is Eosinophilic Esophagitis (EoE). Other ... | Immune system disease | |
| H01783 | Ebstein anomaly | Ebstein anomaly is a rare congenital heart abnormality, characterized by downward displacement of the tricuspid valve into the right ventricle. Displacement and malformation of the tricuspid valve is accompanied ... | Congenital malformation | |
| H01784 | Primary hyperchylomicronemia | Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to the accumulation of chylomicron. The main clinical symptoms of this disorder are a huge increase in plasma triglyceride ... | Inherited metabolic disorder | |
| H01785 | Tricuspid atresia | Tricuspid atresia is the third most common cyanotic congenital heart defect. It consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle ... | Congenital malformation | |
| H01786 | Congenitally corrected transposition of the great arteries | Congenitally corrected transposition of the great arteries is a rare cardiac defect characterized by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance. The morphologic ... | Congenital malformation | |
| H01787 | Univentricular heart | Univentricular heart is a term used to describe a wide variety of structural cardiac abnormalities associated with a functional single ventricular chamber. Truly solitary ventricles are exceedingly rare ... | Congenital malformation | |
| H01788 | Klippel-Trenaunay-Weber syndrome | Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas ... | Congenital malformation | |
| H01789 | You-Hoover-Fong syndrome | You-Hoover-Fong syndrome is an autosomal-recessive syndromic form of intellectual disability. It has been reported that compound heterozygous variants in TELO2 were found from six affected individuals ... | Congenital malformation | |
| H01790 |
Emanuel syndrome Supernumerary derivative 22 syndrome |
Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies ... | Chromosomal abnormality | |
| H01791 | Smith-Magenis syndrome | Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability ... | Chromosomal abnormality | |
| H01792 | 1p36 deletion syndrome | 1p36 deletion syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features ... | Chromosomal abnormality | |
| H01793 |
Young-Simpson syndrome Say-Barber-Biesecker-Young-Simpson syndrome Say-Barber-Biesecker variant of Ohdo syndrome |
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability ... | Congenital malformation | |
| H01794 | Genitopatellar syndrome | Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital and renal anomalies, congenital flexion deformities of the limbs, distinctive ... | Congenital malformation | |
| H01795 |
Blepharophimosis-mental retardation syndrome Ohdo syndrome |
Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying ... | Congenital malformation | |
| H01796 |
Uncombable hair syndrome Spun glass hair syndrome Pili trianguli et canaliculi |
Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected ... | Congenital malformation | |
| H01797 |
Webb-Dattani syndrome Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome |
Webb-Dattani syndrome is an autosomal recessive disorder characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe ... | Congenital malformation | |
| H01798 | Autosomal dominant neovascular inflammatory vitreoretinopathy | Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior ... | Nervous system disease | |
| H01799 |
Vibratory urticaria Vibratory angioedema |
Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory ... | Immune system disease; Skin disease | |
| H01800 |
Verheij syndrome Chromosome 8q24.3 deletion syndrome |
Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, ... | Congenital malformation | |
| H01801 |
Kagami-Ogata syndrome Paternal uniparental disomy 14 |
Paternal uniparental disomy 14 syndrome is characterized by characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios ... | Chromosomal abnormality | |
| H01802 | Pulmonary atresia with intact ventricular septum | Pulmonary atresia with intact ventricular septum (PAIVS) is a severe cardiac malformation characterized by variable right ventricular development and imperforate pulmonary valve. PAIVS has a wide spectrum ... | Congenital malformation | |
| H01803 | Pulmonary atresia with ventricular septal defect | Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare and complex cyanotic congenital heart malformation that has a high incidence of early mortality. PA-VSD presents with complete absence ... | Congenital malformation | |
| H01804 | Isaacs syndrome | Isaacs syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyper excitability. Symptoms commonly include myokymia, pseudomyotonia, muscle cramps ... | Nervous system disease; Musculoskeletal disease | |
| H01805 |
Tricho-hepato-enteric syndrome Syndromic diarrhea |
Tricho-hepato-enteric syndrome (THE), also known as syndromic diarrhea (SD), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous ... | Congenital malformation | |
| H01806 | Tenorio syndrome | Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502] ... | Congenital malformation |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |