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orphaentry | 101937 | Rare pancreatic disease
orphaentry | 101351 | Familial isolated congenital asplenia
orphaentry | 101435 | Rare genetic eye disease
orphaentry | 101433 | Rare urogenital disease
orphaentry | 101960 | Genetic chronic primary adrenal insufficiency
orphaentry | 101963 | Acquired chronic primary adrenal insufficiency
orphaentry | 101972 | Combined T and B cell immunodeficiency
orphaentry | 101950 | Rare eye tumor
orphaentry | 101945 | Rare bronchopulmonary tumor
orphaentry | 101944 | Rare pulmonary disease
orphaentry | 101957 | Pituitary deficiency
orphaentry | 101956 | Polyendocrinopathy
orphaentry | 101959 | Chronic primary adrenal insufficiency
orphaentry | 101958 | Primary adrenal insufficiency
orphaentry | 101953 | Rare dyslipidemia
orphaentry | 101952 | Rare diabetes mellitus
orphaentry | 101955 | Rare thyroid disease
orphaentry | 101954 | Rare adrenal disease
orphaentry | 101150 | Autosomal recessive dopa-responsive dystonia
orphaentry | 101151 | Dystonia 14
orphaentry | 101111 | Spinocerebellar ataxia type 25
orphaentry | 101112 | Spinocerebellar ataxia type 26
orphaentry | 101109 | Spinocerebellar ataxia type 28
orphaentry | 101110 | Spinocerebellar ataxia type 20
orphaentry | 101107 | Spinocerebellar ataxia type 22
orphaentry | 101108 | Spinocerebellar ataxia type 23
orphaentry | 101106 | Non-secreting chemodectoma
orphaentry | 101334 | African tick typhus
orphaentry | 101330 | Porphyria cutanea tarda
orphaentry | 101206 | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
orphaentry | 101085 | Charcot-Marie-Tooth disease type 1F
orphaentry | 101088 | X-linked hyper-IgM syndrome
orphaentry | 101081 | Charcot-Marie-Tooth disease type 1A
orphaentry | 101082 | Charcot-Marie-Tooth disease type 1B
orphaentry | 101083 | Charcot-Marie-Tooth disease type 1C
orphaentry | 101084 | Charcot-Marie-Tooth disease type 1D
orphaentry | 101077 | X-linked Charcot-Marie-Tooth disease type 3
orphaentry | 101078 | X-linked Charcot-Marie-Tooth disease type 4
orphaentry | 101075 | X-linked Charcot-Marie-Tooth disease type 1
orphaentry | 101076 | X-linked Charcot-Marie-Tooth disease type 2
orphaentry | 101102 | Charcot-Marie-Tooth disease type 2H
orphaentry | 101101 | Charcot-Marie-Tooth disease type 2B2
orphaentry | 101104 | Marin-Amat syndrome
orphaentry | 101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
orphaentry | 101096 | Aregenerative anemia
orphaentry | 101090 | Hyper-IgM syndrome type 3
orphaentry | 101089 | Hyper-IgM syndrome type 2
orphaentry | 101092 | Hyper-IgM syndrome type 5
orphaentry | 101091 | Hyper-IgM syndrome type 4
orphaentry | 101049 | Familial hypocalciuric hypercalcemia type 2
orphaentry | 101050 | Familial hypocalciuric hypercalcemia type 3
orphaentry | 101043 | Aortic valve dysplasia
orphaentry | 101041 | Familial hypofibrinogenemia
orphaentry | 101046 | Autosomal dominant epilepsy with auditory features
orphaentry | 101068 | Congenital stromal corneal dystrophy
orphaentry | 101071 | Unilateral hemispheric polymicrogyria
orphaentry | 101070 | Bilateral frontoparietal polymicrogyria
orphaentry | 101063 | Situs inversus totalis
orphaentry | 101022 | Mediterranean macrothrombocytopenia
orphaentry | 101023 | Cleft hard palate
orphaentry | 101009 | Autosomal dominant spastic paraplegia type 29
orphaentry | 101010 | Autosomal spastic paraplegia type 30
orphaentry | 101011 | Autosomal dominant spastic paraplegia type 31
orphaentry | 101016 | Romano-Ward syndrome
orphaentry | 101039 | Female restricted epilepsy with intellectual disability
orphaentry | 101028 | Transaldolase deficiency
orphaentry | 101030 | Subependymal nodular heterotopia
orphaentry | 101029 | Sub-cortical nodular heterotopia
orphaentry | 100984 | Autosomal dominant spastic paraplegia type 3
orphaentry | 100982 | Autosomal recessive pure spastic paraplegia
orphaentry | 100981 | Autosomal recessive complex spastic paraplegia
orphaentry | 100980 | Autosomal dominant pure spastic paraplegia
orphaentry | 100979 | Autosomal dominant complex spastic paraplegia
orphaentry | 100978 | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
orphaentry | 100991 | Autosomal dominant spastic paraplegia type 10
orphaentry | 100989 | Autosomal dominant spastic paraplegia type 8
orphaentry | 100988 | Autosomal dominant spastic paraplegia type 6
orphaentry | 100986 | Autosomal recessive spastic paraplegia type 5A
orphaentry | 100985 | Autosomal dominant spastic paraplegia type 4
orphaentry | 100999 | Autosomal dominant spastic paraplegia type 19
orphaentry | 101000 | Autosomal recessive spastic paraplegia type 20
orphaentry | 100997 | X-linked spastic paraplegia type 16
orphaentry | 100998 | Autosomal dominant spastic paraplegia type 17
orphaentry | 100995 | Autosomal recessive spastic paraplegia type 14
orphaentry | 100996 | Autosomal recessive spastic paraplegia type 15
orphaentry | 100993 | Autosomal dominant spastic paraplegia type 12
orphaentry | 100994 | Autosomal dominant spastic paraplegia type 13
orphaentry | 101007 | Autosomal recessive spastic paraplegia type 27
orphaentry | 101008 | Autosomal recessive spastic paraplegia type 28
orphaentry | 101005 | Autosomal recessive spastic paraplegia type 25
orphaentry | 101006 | Autosomal recessive spastic paraplegia type 26
orphaentry | 101003 | Autosomal recessive spastic paraplegia type 23
orphaentry | 101004 | Autosomal recessive spastic paraplegia type 24
orphaentry | 101001 | Autosomal recessive spastic paraplegia type 21
orphaentry | 100088 | Thyroid carcinoma
orphaentry | 100091 | Adrenal/paraganglial tumor
orphaentry | 100090 | Rare parathyroid tumor
orphaentry | 100085 | Primary hepatic neuroendocrine carcinoma
orphaentry | 100084 | Middle ear neuroendocrine tumor
orphaentry | 100087 | Thyroid tumor

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