Lista chorób rzadkich*

139024 - Overgrowth/obesity syndrome

139027 - Rare developmental defect with skin/mucosae involvement

139030 - Rare developmental defect with connective tissue involvement

139033 - Progeroid syndrome

139036 - Branchial arch or oral-acral syndrome

139039 - Orofacial clefting syndrome

139042 - Malformation syndrome with odontal and/or periodontal component

139373 - OBSOLETE: Recessive hereditary methemoglobinemia type 1

139380 - OBSOLETE: Recessive hereditary methemoglobinemia type 2

139390 - Non-syndromic craniosynostosis

139393 - Syndromic craniosynostosis

139396 - X-linked cerebral adrenoleukodystrophy

139399 - Adrenomyeloneuropathy

139402 - Drug reaction with eosinophilia and systemic symptoms

139406 - Encephalopathy due to prosaposin deficiency

139411 - Carney triad

139414 - Congenital panfollicular nevus

139417 - Acute transverse myelitis

139420 - OBSOLETE: Secondary acute transverse myelitis

139423 - Idiopathic acute transverse myelitis

139426 - Perioral myoclonia with absences

139431 - Jeavons syndrome

139436 - Multicentric reticulohistiocytosis

139441 - Hypomyelination with atrophy of basal ganglia and cerebellum

139444 - Leukoencephalopathy with bilateral anterior temporal lobe cysts

139447 - Progressive cavitating leukoencephalopathy

139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

139455 - Autosomal recessive bestrophinopathy

139466 - SERKAL syndrome

139471 - Microphthalmia with brain and digit anomalies

139474 - 17q11.2 microduplication syndrome

139477 - Al-Gazali-Dattani syndrome

139480 - Autosomal recessive spastic paraplegia type 39

139485 - Autosomal recessive ataxia due to ubiquinone deficiency

139491 - OBSOLETE: Hemochromatosis type 4

139498 - NON RARE IN EUROPE: Hemochromatosis type 1

139507 - Dietary iron overload disease

139512 - Neuropathy with hearing impairment

139515 - Charcot-Marie-Tooth disease type 4J

139518 - Distal hereditary motor neuropathy type 1

139525 - Distal hereditary motor neuropathy type 2

139536 - Distal hereditary motor neuropathy type 5

139547 - Distal spinal muscular atrophy type 3

139552 - Distal hereditary motor neuropathy, Jerash type

139557 - X-linked distal spinal muscular atrophy type 3

139564 - Hereditary sensory and autonomic neuropathy type 1B

139573 - Hereditary sensory and autonomic neuropathy with deafness and global delay

139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia

139583 - X-linked hereditary sensory and autonomic neuropathy with deafness

139589 - Distal hereditary motor neuropathy type 7

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