Lista chorób rzadkich*

466658 - Rare disease with malignant hyperthermia

466667 - NON RARE IN EUROPE: Colorectal cancer

466670 - Cyanide poisoning

466673 - NON RARE IN EUROPE: Post-herpetic neuralgia

466677 - Scorpion envenomation

466682 - Euthyroid Graves orbitopathy

466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

466695 - Supratip dysplasia

466703 - TMEM199-CDG

466718 - Martinique crinkled retinal pigment epitheliopathy

466722 - Autosomal recessive spastic paraplegia type 77

466729 - Familial patent arterial duct

466732 - OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome

466768 - Autosomal dominant Charcot-Marie-Tooth disease type 2Z

466775 - Autosomal recessive Charcot-Marie-Tooth disease type 2X

466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome

466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

466801 - LIMS2-related limb-girdle muscular dystrophy

466806 - Autosomal dominant thrombocytopenia with platelet secretion defect

466921 - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

466926 - Seizures-scoliosis-macrocephaly syndrome

466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy

466943 - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

466962 - SMARCA4-deficient sarcoma of thorax

467166 - Tubulinopathy-associated dysgyria

467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

468620 - Intellectual disability-epilepsy-extrapyramidal syndrome

468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency

468635 - Cryptogenic multifocal ulcerous stenosing enteritis

468641 - Chronic enteropathy associated with SLCO2A1 gene

468661 - Autosomal recessive spastic paraplegia type 74

468666 - Isolated generalized anhidrosis with normal sweat glands

468672 - Colobomatous macrophthalmia-microcornea syndrome

468678 - White-Sutton syndrome

468684 - CCDC115-CDG

468699 - SLC39A8-CDG

468717 - Rhizomelic chondrodysplasia punctata type 5

468726 - Severe primary trimethylaminuria

471383 - Genetic lethal multiple congenital anomalies/dysmorphic syndrome

474347 - Rare congenital anomaly of ventricular septum

476084 - BVES-related limb-girdle muscular dystrophy

476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

476096 - Erythrokeratodermia-cardiomyopathy syndrome

476102 - Hereditary pediatric Behçet-like disease

476109 - Axonal hereditary motor and sensory neuropathy

476113 - Combined immunodeficiency due to TFRC deficiency

476116 - Demyelinating hereditary motor and sensory neuropathy

476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

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