Rare disease

postural orthostatic tachycardia syndrome multiple endocrine neoplasia type 2B glycogen storage disease I Juvenile primary lateral sclerosis Hajdu-Cheney syndrome macrocephaly central core myopathy Menkes disease premature ovarian failure Lenz–Majewski syndrome leukocyte adhesion deficiency-1 Leukotriene C4 synthase deficiency Ligneous conjunctivitis Limb–mammary syndrome torsion dystonia metabolic syndrome hereditary spastic paraplegia Ribose-5-phosphate isomerase deficiency TAR syndrome congenital disorder of glycosylation Iq MODY 5 MODY 6 Malouf syndrome Marden–Walker syndrome Marshall syndrome Michelin tire baby syndrome 3MC syndrome 1 Warburg micro syndrome Sneddon syndrome mitochondrial DNA depletion syndrome 1 dopamine-responsive dystonia muscular disease essential tremor neutral lipid storage disease neutrophil immunodeficiency syndrome transmissible spongiform encephalopathy Oliver–McFarlane syndrome PAPA syndrome renal coloboma syndrome childhood onset GLUT1 deficiency syndrome 2 paroxysmal extreme pain disorder Perlman syndrome Potassium-aggravated myotonia Potocki–Shaffer syndrome primary cutaneous amyloidosis Primrose syndrome progressive myoclonus epilepsy properdin deficiency pure hair-nail type ectodermal dysplasia pyridoxine-dependent epilepsy