orphafolder

| 85279 | Syndromic X-linked intellectual disability due to JARID1C mutation
| 85280 | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
| 85281 | MECP2 duplication syndrome
| 85282 | MEHMO syndrome
| 85283 | X-linked intellectual disability, Miles-Carpenter type
| 85284 | BRESEK syndrome
| 85285 | X-linked intellectual disability, Schimke type
| 85286 | X-linked intellectual disability, Shashi type
| 85287 | X-linked intellectual disability, Siderius type
| 85288 | X-linked intellectual disability, Stocco Dos Santos type
| 85289 | X-linked intellectual disability, Vitale type
| 85293 | X-linked intellectual disability, Cabezas type
| 85292 | X-linked spinocerebellar ataxia type 4
| 85291 | X-linked intellectual disability, Wittwer type
| 85290 | X-linked intellectual disability, Wilson type
| 85317 | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
| 85297 | X-linked spinocerebellar ataxia type 3
| 85295 | HSD10 disease, atypical type
| 85294 | X-linked epilepsy-learning disabilities-behavior disorders syndrome
| 85321 | Deafness-intellectual disability syndrome, Martin-Probst type
| 85320 | X-linked intellectual disability-macrocephaly-macroorchidism syndrome
| 85319 | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
| 85325 | X-linked intellectual disability, Stevenson type
| 85324 | X-linked intellectual disability, Shrimpton type
| 85323 | X-linked intellectual disability, Seemanova type
| 85322 | X-linked intellectual disability, Pai type
| 85328 | X-linked intellectual disability, Turner type
| 85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
| 85326 | X-linked intellectual disability, Stoll type
| 85327 | X-linked intellectual disability-acromegaly-hyperactivity syndrome
| 85332 | X-linked intellectual disability-retinitis pigmentosa syndrome
| 85333 | X-linked intellectual disability-spastic paraplegia with iron deposits syndrome
| 85330 | X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
| 85336 | X-linked neurodegenerative syndrome, Hamel type
| 85337 | X-linked intellectual disability, Zorick type
| 85334 | X-linked neurodegenerative syndrome, Bertini type
| 85335 | Fried syndrome
| 85410 | Oligoarticular juvenile idiopathic arthritis
| 85414 | Systemic-onset juvenile idiopathic arthritis
| 85338 | X-linked intellectual disability-ataxia-apraxia syndrome
| 85408 | Rheumatoid factor-negative juvenile idiopathic arthritis
| 85443 | AL amyloidosis
| 85442 | Short stature-pituitary and cerebellar defects-small sella turcica syndrome
| 85446 | Wild type ABeta2M amyloidosis
| 85445 | AA amyloidosis
| 85436 | Psoriasis-related juvenile idiopathic arthritis
| 85435 | Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
| 85438 | Enthesitis-related juvenile idiopathic arthritis
| 85458 | Hereditary cerebral hemorrhage with amyloidosis
| 85453 | X-linked reticulate pigmentary disorder
| 86788 | X-linked severe congenital neutropenia
| 86309 | DPAGT1-CDG
| 85448 | AGel amyloidosis
| 85447 | ATTRV30M amyloidosis
| 85451 | ATTRV122I amyloidosis
| 85450 | Hereditary amyloidosis with primary renal involvement
| 86812 | Autosomal recessive limb-girdle muscular dystrophy type 2K
| 86813 | Helicoid peripapillary chorioretinal degeneration
| 86814 | Benign adult familial myoclonic epilepsy
| 86815 | Aplasia of lacrimal and salivary glands
| 86789 | Patella aplasia/hypoplasia
| 86795 | Localized lichen myxedematosus
| 86797 | Atypical lichen myxedematosus
| 86820 | Familial avascular necrosis of femoral head
| 86821 | Lissencephaly type 3-familial fetal akinesia sequence syndrome
| 86822 | Lissencephaly type 3-metacarpal bone dysplasia syndrome
| 86823 | Lissencephaly with cerebellar hypoplasia
| 86816 | Congenital analbuminemia
| 86817 | Hemolytic anemia due to adenylate kinase deficiency
| 86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
| 86819 | Atrichia with papular lesions
| 86843 | Acute panmyelosis with myelofibrosis
| 86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
| 86839 | Refractory anemia with excess blasts
| 86836 | Refractory cytopenia with multilineage dysplasia
| 86834 | Juvenile myelomonocytic leukemia
| 86830 | Chronic myeloproliferative disease, unclassifiable
| 86829 | Chronic neutrophilic leukemia
| 86855 | Plasmacytoma
| 86854 | Splenic marginal zone lymphoma
| 86852 | B-cell prolymphocytic leukemia
| 86851 | Acute leukemia of ambiguous lineage
| 86850 | Myeloid sarcoma
| 86849 | Acute basophilic leukemia
| 86846 | Therapy related acute myeloid leukemia and myelodysplastic syndrome
| 86845 | Acute myeloid leukaemia with myelodysplasia-related features
| 86872 | T-cell large granular lymphocyte leukemia
| 86873 | Aggressive NK-cell leukemia
| 86870 | CD4+/CD56+ hematodermic neoplasm
| 86871 | T-cell prolymphocytic leukemia
| 86867 | Nodal marginal zone B-cell lymphoma
| 86869 | Lymphomatoid granulomatosis
| 86861 | Non-amyloid monoclonal immunoglobulin deposition disease
| 86864 | Heavy chain disease
| 86886 | Angioimmunoblastic T-cell lymphoma
| 86893 | Nodular lymphocyte predominant Hodgkin lymphoma
| 86884 | Subcutaneous panniculitis-like T-cell lymphoma
| 86885 | Primary cutaneous peripheral T-cell lymphoma not otherwise specified
| 86880 | Enteropathy-associated T-cell lymphoma
| 86882 | Hepatosplenic T-cell lymphoma

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