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Entry Name Description Category Pathway
H01766 Juvenile retinoschisis Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause ... Congenital malformation
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
Van Buchem disease
Hyperostosis corticalis generalisata, also known as Van Buchem disease (VBCH), is an autosomal recessive disease. This disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina ... 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 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 basal ... 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; Digestive 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 disease; Cardiovascular disease
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 characterised by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance ... 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 ... Skin and connective tissue disease
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 ... Skin and connective tissue 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
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