orphafolder

| 319229 | Bolivian hemorrhagic fever
| 319234 | Venezuelan hemorrhagic fever
| 319218 | Ebola hemorrhagic fever
| 319223 | Argentine hemorrhagic fever
| 319160 | Congenital myopathy with internal nuclei and atypical cores
| 319171 | Distal 17p13.1 microdeletion syndrome
| 319189 | Familial cortical myoclonus
| 319192 | Diencephalic-mesencephalic junction dysplasia
| 319182 | Wiedemann-Steiner syndrome
| 317419 | T-B- severe combined immunodeficiency
| 317416 | T-B+ severe combined immunodeficiency
| 317428 | Combined immunodeficiency due to ORAI1 deficiency
| 317425 | Severe combined immunodeficiency due to DNA-PKcs deficiency
| 317430 | Combined immunodeficiency due to STIM1 deficiency
| 317473 | Pancytopenia due to IKZF1 mutations
| 317476 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
| 315350 | Autoimmune disease with skin involvement
| 315311 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
| 315306 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
| 314993 | Cataract-congenital heart disease-neural tube defect syndrome
| 314978 | X-linked non progressive cerebellar ataxia
| 314970 | Lymphocytic hypereosinophilic syndrome
| 314962 | Secondary hypereosinophilic syndrome
| 314950 | Primary hypereosinophilic syndrome
| 314946 | Mycobacterium xenopi infection
| 314928 | Normal pressure hydrocephalus
| 314918 | Mild Canavan disease
| 314911 | Severe Canavan disease
| 316244 | Partial deletion of the short arm of chromosome 12
| 316235 | Autosomal dominant spastic ataxia
| 316240 | Autosomal recessive spastic ataxia
| 316226 | Spastic ataxia
| 314701 | Primary systemic amyloidosis
| 314697 | Acquired porencephaly
| 314709 | Primary localized amyloidosis
| 314679 | Cerebrofacioarticular syndrome
| 314667 | TMEM165-CDG
| 314689 | Combined immunodeficiency due to STK4 deficiency
| 314684 | Primary bone lymphoma
| 314652 | Variant ABeta2M amyloidosis
| 314647 | Non-progressive cerebellar ataxia with intellectual disability
| 314662 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
| 314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
| 314629 | CLN11 disease
| 314621 | Duplication of the pituitary gland
| 314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
| 314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis
| 314802 | Short stature due to partial GHR deficiency
| 314811 | Short stature due to GHSR deficiency
| 314822 | Primary renal tubular acidosis
| 314889 | Autosomal dominant proximal renal tubular acidosis
| 314777 | Familial isolated pituitary adenoma
| 314786 | Silent pituitary adenoma
| 314790 | Null pituitary adenoma
| 314795 | SHOX-related short stature
| 314753 | Functioning pituitary adenoma
| 314759 | Mixed functioning pituitary adenoma
| 314769 | Somatomammotropinoma
| 314718 | Lethal arteriopathy syndrome due to fibulin-4 deficiency
| 314721 | Atypical dentin dysplasia due to SMOC2 deficiency
| 314749 | Rare disease with Cushing syndrome as a major feature
| 370127 | Medich giant platelet syndrome
| 370114 | Combined cervical dystonia
| 370109 | Ataxia-telangiectasia variant
| 370106 | Rare disorder with dystonia and other neurologic or systemic manifestation
| 370103 | Primary dystonia, DYT17 type
| 370097 | Oculocutaneous albinism type 6
| 370091 | Oculocutaneous albinism type 5
| 370396 | Small cell carcinoma of the ovary
| 370348 | Peripheral primitive neuroectodermal tumor
| 370334 | Extraskeletal Ewing sarcoma
| 370131 | White platelet syndrome
| 370046 | Didymosis aplasticosebacea
| 370034 | Familial syringomyelia
| 370039 | Angora hair nevus
| 370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
| 370026 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation
| 370015 | Spondyloepimetaphyseal dysplasia, Isidor type
| 370019 | Spondylometaphyseal dysplasia, Czarny-Ratajczak type
| 370088 | Acute infantile liver failure-multisystemic involvement syndrome
| 370076 | Fetal carbamazepine syndrome
| 370079 | Proximal 16p11.2 microduplication syndrome
| 370068 | Fetal anticonvulsant syndrome
| 370052 | SCALP syndrome
| 370059 | NEVADA syndrome
| 371054 | X-linked congenital disorder of glycosylation with intellectual disability as a major feature
| 371047 | Congenital disorder of glycosylation with neurological involvement
| 371071 | Congenital disorder of glycosylation with epilepsy as a major feature
| 371064 | Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
| 371007 | Congenital muscular dystrophy with hyperlaxity
| 370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy
| 371040 | Primary qualitative or quantitative defects of alpha-dystroglycan
| 371024 | Qualitative or quantitative defects of alpha-dystroglycan
| 371183 | Congenital disorder of glycosylation with cardiac malformation as a major feature
| 371176 | Congenital disorder of glycosylation with dilated cardiomyopathy
| 371195 | Congenital disorder of glycosylation-related bone disorder
| 371188 | Congenital disorder of glycosylation with intestinal involvement
| 371157 | Congenital disorder of glycosylation with hepatic involvement
| 370921 | STT3A-CDG
| 370924 | STT3B-CDG

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