orphafolder

| 3271 | Radio-ulnar synostosis-retinal pigment abnormalities syndrome
| 209004 | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
| 208989 | Non-paraneoplastic sensory ganglionopathy
| 208981 | Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
| 1894 | Ectrodactyly-spina bifida-cardiopathy syndrome
| 208984 | Acquired sensory ganglionopathy
| 1101 | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
| 208974 | Chronic acquired demyelinating polyneuropathy
| 208978 | Chronic polyradiculoneuropathy
| 2184 | Hydrocephaly-low insertion umbilicus syndrome
| 1779 | Dysmorphism-cleft palate-loose skin syndrome
| 208650 | Cryopyrin-associated periodic syndrome
| 1272 | Aymé-Gripp syndrome
| 208593 | Genetic hypoparathyroidism
| 208596 | Genetic hyperparathyroidism
| 208513 | Spinocerebellar ataxia type 29
| 208524 | Herpetiform pemphigus
| 208508 | Autosomal dominant cerebellar ataxia type II
| 1485 | Arthrogryposis-hyperkeratosis syndrome, lethal form
| 3051 | Intellectual disability-sparse hair-brachydactyly syndrome
| 208447 | Bilateral generalized polymicrogyria
| 208444 | Bilateral frontal polymicrogyria
| 208441 | Bilateral parasagittal parieto-occipital polymicrogyria
| 1134 | Isolated arrhinia
| 1664 | Embryonary disorganization syndrome
| 1768 | Familial caudal dysgenesis
| 207122 | Qualitative or quantitative defects of fukutin
| 2204 | Dysplastic cortical hyperostosis
| 207119 | Qualitative or quantitative defects of FKRP
| 207113 | Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
| 2963 | Progeroid syndrome, Petty type
| 207110 | Qualitative or quantitative defects of myotubularin
| 207107 | Qualitative or quantitative defects of TRIM32
| 2619 | Brachydactylous dwarfism, Mseleni type
| 207104 | Qualitative or quantitative defects of calpain
| 207101 | Qualitative or quantitative defects of perlecan
| 1541 | Craniosynostosis, Boston type
| 1415 | Cholestasis-pigmentary retinopathy-cleft palate syndrome
| 2151 | Hirschsprung disease-ganglioneuroblastoma syndrome
| 2653 | Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
| 209335 | Autosomal dominant adult-onset proximal spinal muscular atrophy
| 209341 | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
| 209185 | Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
| 1773 | Sacrococcygeal dysgenesis association
| 209188 | Qualitative or quantitative defects of emerin
| 3167 | Siegler-Brewer-Carey syndrome
| 209193 | Qualitative or quantitative defects of selenoprotein N1
| 209196 | Qualitative or quantitative defects of plectin
| 209199 | Qualitative or quantitative defects of protein SERCA1
| 209203 | Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
| 209224 | Qualitative or quantitative defects of myotilin
| 209044 | Qualitative or quantitative defects of alphaB-cristallin
| 1277 | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
| 209041 | Qualitative or quantitative defects of desmin
| 2547 | Microphthalmia-microtia-fetal akinesia syndrome
| 209050 | Qualitative or quantitative defects of protein ZASP
| 209047 | Qualitative or quantitative defects of filamin C
| 209056 | Qualitative or quantitative defects of telethonin
| 209053 | Qualitative or quantitative defects of titin
| 209182 | Qualitative or quantitative defects of nebulin
| 1778 | Facial dysmorphism-shawl scrotum-joint laxity syndrome
| 209059 | Qualitative or quantitative defects of alpha-actin
| 3074 | Intellectual disability-short stature-hypertelorism syndrome
| 2649 | Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome
| 209016 | Hematological disease associated with an acquired peripheral neuropathy
| 209013 | Acquired amyloid peripheral neuropathy
| 209024 | Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
| 209019 | Solid tumor associated with an acquired peripheral neuropathy
| 1759 | Thoraco-abdominal enteric duplication
| 209030 | Qualitative or quantitative defects of protein O-mannosyltransferase 1
| 209027 | Qualitative or quantitative defects of protein glycosyltransferase-like
| 209038 | Qualitative or quantitative defects of myofibrillar proteins
| 209033 | Qualitative or quantitative defects of protein O-mannosyltransferase 2
| 1167 | Facial asymmetry-temporal seizures syndrome
| 210110 | Intermediate osteopetrosis
| 3405 | Umbilical cord ulceration-intestinal atresia syndrome
| 210115 | Sterile multifocal osteomyelitis with periostitis and pustulosis
| 1884 | Ectopia lentis-chorioretinal dystrophy-myopia syndrome
| 209981 | IRIDA syndrome
| 1459 | Celiac disease-epilepsy-cerebral calcification syndrome
| 209989 | Non-papillary transitional cell carcinoma of the bladder
| 210133 | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
| 210136 | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
| 2582 | Myalgia-eosinophilia syndrome associated with tryptophan
| 210122 | Congenital alveolar capillary dysplasia
| 210128 | Urocanic aciduria
| 2254 | Pontocerebellar hypoplasia type 1
| 209959 | Phacoanaphylactic uveitis
| 209964 | Solitary rectal ulcer syndrome
| 209951 | Autosomal recessive spastic paraplegia type 18
| 209956 | Idiopathic uveal effusion syndrome
| 209973 | Benign nocturnal alternating hemiplegia of childhood
| 209978 | Alternating hemiplegia
| 209967 | Episodic ataxia type 6
| 209970 | Episodic ataxia type 7
| 2795 | Polycystic ovaries-urethral sphincter dysfunction syndrome
| 209908 | Childhood apraxia of speech
| 209905 | Brain-lung-thyroid syndrome
| 2033 | Multifocal muscular fibrosis-obstructed vessels syndrome
| 209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

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