orphafolder

| 98121 | Cys-loop receptor channelopathy
| 98122 | Channelopathy due to a neuronal glycine receptor defect
| 98123 | Channelopathy due to a neuronal kidney GABA receptor defect
| 98124 | Channelopathy due to a skeletal muscle acetylcholine receptor defect
| 98125 | Channelopathy due to a neuronal acetylcholine receptor defect
| 98127 | Autosomal anomaly
| 98130 | Autosomal trisomy
| 98131 | Total autosomal trisomy
| 98132 | Partial autosomal trisomy/tetrasomy
| 98103 | Channelopathy due to a voltage-gated potassium channel defect
| 98102 | Channelopathy due to an inwardly rectifying potassium channel defect
| 98105 | Channelopathy due to cyclic nucleotide-gated ion channels
| 98104 | Channelopathy due to a transient receptor potential channel defect
| 98107 | Channelopathy due to a voltage-gated sodium channel defect
| 98106 | Channelopathy due to a calcium-activated potassium channel defect
| 98109 | Non-pore-loop channelopathy
| 98108 | Channelopathy due to a voltage-gated calcium channel defect
| 98111 | Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect
| 98110 | Channelopathy due to an epithelial sodium channel defect
| 98113 | Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly
| 98112 | Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect
| 98115 | Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly
| 98114 | Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly
| 98117 | Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly
| 98116 | Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly
| 98152 | Autosomal uniparental disomy
| 98153 | Maternal uniparental disomy
| 98156 | Gonosome number anomaly
| 98157 | Gonosome structural anomaly
| 98154 | Paternal uniparental disomy
| 98155 | Gonosome anomaly
| 98158 | Chromosome Y structural anomaly
| 98159 | Chromosome X structural anomaly
| 98141 | Total autosomal monosomy
| 98142 | Partial autosomal monosomy
| 98058 | Rare urinary tract tumor
| 98059 | Rare digestive tumor
| 98060 | Rare respiratory tumor
| 98061 | Rare otorhinolaryngologic tumor
| 98054 | Rare genetic cardiac disease
| 98056 | Rare genetic renal disease
| 98057 | Rare tumor
| 98068 | Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
| 98069 | Autosomal dominant spinocerebellar ataxia due to a channelopathy
| 98062 | Rare nervous system tumor
| 98063 | Rare gynecological tumor
| 98043 | Diaphragmatic or abdominal wall malformation
| 98045 | Respiratory or mediastinal malformation
| 98044 | Central nervous system malformation
| 98039 | Digestive tract malformation
| 98038 | Cranial malformation
| 98041 | Visceral malformation of the liver, biliary tract, pancreas or spleen
| 98050 | Rare allergic disease
| 98053 | Rare genetic disease
| 98052 | Rare allergic respiratory disease
| 98047 | Rare infertility
| 98049 | Rare female infertility
| 98048 | Rare male infertility
| 98086 | 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
| 98087 | Syndrome with 46,XY disorder of sex development
| 98101 | Pore-loop channelopathy
| 98098 | Autosomal recessive degenerative and progressive cerebellar ataxia
| 98099 | Autosomal recessive syndromic cerebellar ataxia
| 98096 | Autosomal recessive metabolic cerebellar ataxia
| 98097 | Autosomal recessive cerebellar ataxia due to a DNA repair defect
| 98095 | Autosomal recessive congenital cerebellar ataxia
| 98074 | Gonadal dysgenesis of gynecological interest
| 98073 | Unclassified autosomal dominant spinocerebellar ataxia
| 98071 | Autosomal dominant spinocerebellar ataxia due to a point mutation
| 98070 | Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine
| 98085 | 46,XY disorder of sex development
| 98078 | 46,XX disorder of sex development induced by androgens excess
| 98255 | Chronic encephalitis
| 98258 | Infantile epilepsy syndrome
| 98257 | Neonatal epilepsy syndrome
| 98260 | Adolescent-onset epilepsy syndrome
| 98259 | Childhood-onset epilepsy syndrome
| 98261 | Progressive myoclonic epilepsy
| 98249 | Ehlers-Danlos syndrome
| 98252 | Infectious encephalitis
| 98253 | Postinfectious encephalitis
| 98290 | Immunodeficiency-associated lymphoproliferative disease
| 98289 | Dendritic cell tumor
| 98288 | Macrophage or histiocytic tumor
| 98287 | Histiocytic and dendritic cell tumor
| 98293 | Hodgkin lymphoma
| 98292 | Mastocytosis
| 98291 | Lymphoproliferative disease associated with primary immune disease
| 98282 | Plasma cell tumor
| 98274 | Myeloproliferative neoplasm
| 98277 | Acute myeloid leukemia with recurrent genetic anomaly
| 98275 | Myelodysplastic/myeloproliferative disease
| 98267 | Genetic non-syndromic obesity
| 98196 | Malformation syndrome with hamartosis
| 98203 | Combined dystonia
| 97245 | Congenital myopathy
| 97244 | Rigid spine syndrome
| 97242 | Congenital muscular dystrophy
| 97261 | GRFoma
| 97253 | Neuroendocrine tumor of pancreas

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