Lista chorób rzadkich*

280651 - Acrodysostosis with multiple hormone resistance

280654 - Autosomal recessive nail dysplasia

280663 - Hermansky-Pudlak syndrome type 9

280671 - Megaconial congenital muscular dystrophy

280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

280763 - Severe intellectual disability and progressive spastic paraplegia

280774 - Generalized essential telangiectasia

280779 - Cutaneous collagenous vasculopathy

280785 - Bullous diffuse cutaneous mastocytosis

280794 - Pseudoxanthomatous diffuse cutaneous mastocytosis

280802 - Intralobar congenital pulmonary sequestration

280811 - Extralobar congenital pulmonary sequestration

280821 - Communicating congenital bronchopulmonary-foregut malformation

280827 - Congenital pulmonary airway malformation type 0

280832 - Congenital pulmonary airway malformation type 1

280840 - Congenital pulmonary airway malformation type 2

280847 - Congenital pulmonary airway malformation type 3

280854 - Congenital pulmonary airway malformation type 4

280886 - Anterior uveitis

280892 - Posterior uveitis

280898 - Panuveitis

280914 - Idiopathic anterior uveitis

280917 - Idiopathic posterior uveitis

280921 - Idiopathic panuveitis

280926 - Systemic diseases with anterior uveitis

280930 - Systemic diseases with posterior uveitis

280933 - Systemic diseases with panuveitis

281082 - Inherited non-syndromic ichthyosis

281085 - Inherited ichthyosis syndromic form

281090 - Syndromic recessive X-linked ichthyosis

281097 - Autosomal recessive congenital ichthyosis

281103 - Keratinopathic ichthyosis

281122 - Self-improving collodion baby

281127 - Acral self-healing collodion baby

281139 - Annular epidermolytic ichthyosis

281190 - Congenital reticular ichthyosiform erythroderma

281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

281210 - X-linked ichthyosis syndrome

281217 - Autosomal ichthyosis syndrome

281222 - Autosomal ichthyosis syndrome with prominent hair abnormalities

281234 - OBSOLETE: Congenital ichthyosis with trichothiodystrophy

281238 - Autosomal ichthyosis syndrome with prominent neurologic signs

281241 - Autosomal ichthyosis syndrome with fatal disease course

281244 - Autosomal ichthyosis syndrome with other associated signs

282124 - Partial deletion of chromosome 12

282166 - Inherited Creutzfeldt-Jakob disease

282196 - Autoimmune polyendocrinopathy

284130 - NON RARE IN EUROPE: Rheumatoid arthritis

284139 - Larsen-like syndrome, B3GAT3 type

284149 - Craniosynostosis-dental anomalies

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