orphafolder

| 1899 | Ehlers-Danlos syndrome, arthrochalasis type
| 231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
| 839 | Congenital nephrotic syndrome, Finnish type
| 232035 | Infectious embryofetopathy
| 531 | Miller-Dieker syndrome
| 3394 | Soft tissue sarcoma
| 1084 | Isolated lissencephaly type 1 without known genetic defects
| 232288 | Alpha-thalassemia-related diseases
| 1083 | Microlissencephaly
| 452 | X-linked lissencephaly with abnormal genitalia
| 238750 | 4q21 microdeletion syndrome
| 238755 | Autosomal dominant limb-girdle muscular dystrophy type 1H
| 238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
| 238696 | Transient congenital hypothyroidism due to maternal factor
| 238699 | Transient congenital hypothyroidism due to neonatal factor
| 238722 | Familial congenital mirror movements
| 238744 | Mammary-digital-nail syndrome
| 238766 | Ptosis-syndactyly-learning difficulties syndrome
| 238769 | 1q44 microdeletion syndrome
| 238510 | Lymphoproliferative syndrome
| 238517 | Hypotonia-cystinuria type 1 syndrome
| 238505 | Autosomal recessive lymphoproliferative disease
| 238468 | Hypohidrotic ectodermal dysplasia
| 238475 | Familial hypercholanemia
| 238455 | Infantile dystonia-parkinsonism
| 238459 | SLC35A1-CDG
| 238578 | Familial clubfoot due to 17q23.1q23.2 microduplication
| 238583 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
| 238557 | Chuvash erythrocytosis
| 238569 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
| 238547 | Acquired secondary polycythemia
| 238523 | Atypical hypotonia-cystinuria syndrome
| 238536 | Congenital secondary polycythemia
| 238637 | Megacystis-megaureter syndrome
| 238624 | Idiopathic intracranial hypertension
| 238621 | Ileal pouch anal anastomosis related faecal incontinence
| 238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation
| 238606 | Primary orthostatic tremor
| 238593 | IgG4-related mesenteritis
| 238688 | Neonatal iodine exposure
| 238670 | Isolated thyrotropin-releasing hormone deficiency
| 238666 | Isolated congenital hypogonadotropic hypogonadism
| 238654 | Congenital primary megaureter, nonrefluxing and unobstructed form
| 238650 | Congenital primary megaureter, refluxing form
| 238646 | Congenital primary megaureter, obstructed form
| 238642 | Primary megaureter, adult-onset form
| 240885 | Irinotecan toxicity
| 240887 | Isoniazid toxicity
| 240869 | Efavirenz toxicity
| 240867 | Codeine toxicity
| 240871 | Flucloxacilline toxicity
| 240921 | Voriconazole toxicity
| 240905 | Raltegravir toxicity
| 240371 | Syndromic obesity
| 240071 | Classic progressive supranuclear palsy syndrome
| 240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
| 240103 | Progressive supranuclear palsy-corticobasal syndrome
| 240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
| 240085 | Progressive supranuclear palsy-parkinsonism syndrome
| 240863 | Cisplatin toxicity
| 240839 | 5-fluorouracil toxicity
| 240841 | Abacavir toxicity
| 240760 | Nijmegen breakage syndrome-like disorder
| 240845 | Allopurinol toxicity
| 241043 | Tacrolimus dose selection
| 240947 | Resistance to tamoxifene
| 240935 | Resistance to clopidogrel
| 331226 | Susceptibility to infection due to TYK2 deficiency
| 331223 | Hyper-IgE syndrome
| 331235 | Selective IgM deficiency
| 331232 | Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
| 331244 | Other immunodeficiency syndrome with predominantly antibody defects
| 331240 | Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
| 331249 | Immunodeficiency syndrome with hypopigmentation
| 331176 | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
| 331184 | Constitutional neutropenia with extra-hematopoietic manifestations
| 331187 | Immunodeficiency due to MASP-2 deficiency
| 331190 | Immunodeficiency due to ficolin3 deficiency
| 331193 | Other immunodeficiency syndromes due to defects in innate immunity
| 331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency
| 331217 | Syndrome with combined immunodeficiency
| 331220 | Immunodeficiency due to absence of thymus
| 330206 | Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
| 330197 | Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
| 330064 | Chronic actinic dermatitis
| 329998 | Lymphomatous meningitis
| 330001 | Wild type ATTR amyloidosis
| 329977 | Classic neuroendocrine tumor of appendix
| 329984 | Goblet cell carcinoma
| 330012 | High altitude pulmonary edema
| 330015 | Lead poisoning
| 330009 | Poliomyelitis in patients with immunodeficiencies deemed at risk
| 330032 | Hemoglobin Lepore-beta-thalassemia syndrome
| 330041 | Hemoglobin M disease
| 330021 | Mercury poisoning
| 330029 | Hypotrichosis-deafness syndrome
| 330058 | Hydroa vacciniforme
| 330061 | Actinic prurigo
| 330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
| 330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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