Lista chorób rzadkich*

101028 - Transaldolase deficiency

101029 - Sub-cortical nodular heterotopia

101030 - Subependymal nodular heterotopia

101033 - OBSOLETE: Peters anomaly-cataract syndrome

101036 - OBSOLETE: Zlotogura-Martinez syndrome

101039 - Female restricted epilepsy with intellectual disability

101041 - Familial hypofibrinogenemia

101042 - OBSOLETE: Taussig-Bing syndrome

101043 - Congenital aortic valve dysplasia

101046 - Autosomal dominant epilepsy with auditory features

101049 - Familial hypocalciuric hypercalcemia type 2

101050 - Familial hypocalciuric hypercalcemia type 3

101052 - OBSOLETE: Microlissencephaly type B

101063 - Situs inversus totalis

101068 - Congenital stromal corneal dystrophy

101070 - Bilateral frontoparietal polymicrogyria

101071 - Unilateral hemispheric polymicrogyria

101075 - X-linked Charcot-Marie-Tooth disease type 1

101076 - X-linked Charcot-Marie-Tooth disease type 2

101077 - X-linked Charcot-Marie-Tooth disease type 3

101078 - X-linked Charcot-Marie-Tooth disease type 4

101081 - Charcot-Marie-Tooth disease type 1A

101082 - Charcot-Marie-Tooth disease type 1B

101083 - Charcot-Marie-Tooth disease type 1C

101084 - Charcot-Marie-Tooth disease type 1D

101085 - Charcot-Marie-Tooth disease type 1F

101088 - X-linked hyper-IgM syndrome

101089 - Hyper-IgM syndrome type 2

101090 - Hyper-IgM syndrome type 3

101091 - Hyper-IgM syndrome type 4

101092 - Hyper-IgM syndrome type 5

101096 - Aregenerative anemia

101097 - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

101101 - Charcot-Marie-Tooth disease type 2B2

101102 - Charcot-Marie-Tooth disease type 2H

101104 - Marin-Amat syndrome

101106 - OBSOLETE: Non-secreting chemodectoma

101107 - Spinocerebellar ataxia type 22

101108 - Spinocerebellar ataxia type 23

101109 - Spinocerebellar ataxia type 28

101110 - Spinocerebellar ataxia type 20

101111 - Spinocerebellar ataxia type 25

101112 - Spinocerebellar ataxia type 26

101150 - Autosomal recessive dopa-responsive dystonia

101151 - Dystonia 14

101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

101330 - Porphyria cutanea tarda

101334 - African tick typhus

101335 - OBSOLETE: Indian tick typhus

101336 - OBSOLETE: Kenya tick typhus

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