There are currently 299 names in this directory.
2-methylbutyryl CoA deficiency 2<a href="https://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria" target="blank">-Hydroxy-glutaric aciduria</a> 3<a href="https://en.wikipedia.org/wiki/3-hydroxy-3-methylglutaryl-CoA_lyase_deficiency" target="blank">-hydroxy-3-methylglutaryl-CoA lyase deficiency</a> 3<a href="https://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency" target="blank">-Methylcrotonyl-CoA carboxylase deficiency</a> 3<a href="https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria" target="blank">-Methylglutaconic aciduria 1</a> 4-Hydroxy-butyric aciduria (SSADHD) 5-alpha-reductase deficiency 6<a href="https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency" target="blank">-Pyruvoyltetrahydropterin synthase deficiency</a> A<a href="http://en.wikipedia.org/w/index.php?title=Activator_Deficiency&action=edit&redlink=1" target="blank">ctivator Deficiency</a> A<a href="https://en.wikipedia.org/wiki/Amyloid_purpura" target="blank">myloid purpura</a> A<a href="https://en.wikipedia.org/wiki/Argininemia" target="blank">rgininemia</a> A<a href="https://en.wikipedia.org/wiki/Argininosuccinic_aciduria" target="blank">rgininosuccinic aciduria</a> A<a href="https://en.wikipedia.org/wiki/Aspartylglucosaminuria" target="blank">spartylglucosaminuria</a> Acatalasia/ Takahara’s disease Acute intermittent porphyria Acyl-CoA oxidase deficiency Allan-Herndon-Dudley syndrome Alpha-methylcayl-CoA racemase deficiency Aminoacylase 1 deficiency Amyotrophic lateral sclerosis Apparent mineral ocorticoid excess syndrome Arnold-Chiari malformation outcomes Aromatase excess syndrome Atopic dermatitis, eczema B<a href="http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease" target="blank">ehçet's disease</a> B<a href="http://en.wikipedia.org/wiki/Beta-mannosidosis" target="blank">eta-mannosidosis</a> B<a href="https://en.wikipedia.org/wiki/Bernard-Soulier_syndrome" target="blank">ernard-Soulier syndrome</a> B<a href="https://en.wikipedia.org/wiki/Biotinidase_deficiency" target="blank">iotinidase deficiency</a> Batten-Spielmeyer-Sjögren-Vogt Betaketothiolase deficiency Burns (Classic thermal and frostbite) C<a href="http://en.wikipedia.org/w/index.php?title=Chronic_Hexosaminidase_A_Deficiency&action=edit&redlink=1" target="blank">hronic Hexosaminidase A Deficiency</a> C<a href="http://en.wikipedia.org/wiki/Cholesteryl_ester_storage_disease" target="blank">holesteryl ester storage disease</a> C<a href="https://en.wikipedia.org/wiki/Carbamoyl_phosphate_synthetase_I_deficiency" target="blank">arbamoyl phosphate synthetase I deficiency</a> C<a href="https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_I_deficiency" target="blank">arnitine palmitoyltransferase I deficiency</a> C<a href="https://en.wikipedia.org/wiki/Carnitine-acylcarnitine_translocase_deficiency" target="blank">arnitine-acylcarnitine translocase deficiency</a> C<a href="https://en.wikipedia.org/wiki/Congenital_erythropoietic_porphyria">ongenital erythropoietic porphyria</a> C<a href="https://en.wikipedia.org/wiki/Cystathioninuria" target="blank">ystathioninuria</a> Cerebral amyloid angiopathy Cerebrotendineous xanthomatosis Chemotherapy side effects (post chemotherapy) Childhood disintegrative disorder Chondroplasias- maintenance therapy Chronic Critical Limb Ischemia Coenzyme A dehydrogenase deficiency Congenital adrenal hyperplasia Congenital dyserythropoietic anemia Congenital hemolytic anemia (nonspherocytic) Cortical visual impairment D-bifunctional protein deficiency D<a href="http://en.wikipedia.org/wiki/Danon_disease" target="blank">anon disease</a> D<a href="https://en.wikipedia.org/wiki/2,4_Dienoyl-CoA_reductase_deficiency" target="blank">ienoyl-CoA reductase deficiency</a> D<a href="https://en.wikipedia.org/wiki/Dermatomyositis" target="blank">ermatomyositis</a> Dehydroxyacetonephosphate acyltransferase def Dopamine Beta hydroxylase deficiency E<a href="https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy" target="blank">thylmalonic encephalopathy</a> F<a href="http://en.wikipedia.org/wiki/Fabry_disease" target="blank">abry disease</a> F<a href="http://en.wikipedia.org/wiki/Farber_disease" target="blank">arber disease</a> F<a href="https://en.wikipedia.org/wiki/Factor_X" target="blank">actor X</a> F<a href="https://en.wikipedia.org/wiki/Fucosidosis" target="blank">ucosidosis</a> F<a href="https://en.wikipedia.org/wiki/Fumarase_deficiency" target="blank">umarase deficiency</a> F<a href="https://en.wikipedia.org/wiki/Hereditary_fructose_intolerance" target="blank">ructose intolerance</a> Factor V deficiency, Owren disease Familial alpha-lipoprotein deficiency Familial male-limited precocious puberty Follicle-stimulating hormone insensitivity G<a href="http://en.wikipedia.org/wiki/Gaucher_Disease" target="blank">aucher Disease</a> G<a href="https://en.wikipedia.org/wiki/Galactosialidosis" target="blank">alactosialidosis</a> G<a href="https://en.wikipedia.org/wiki/Glanzmann%27s_thrombasthenia" target="blank">lanzmann's thrombasthenia</a> G<a href="https://en.wikipedia.org/wiki/Glutaric_aciduria_type_1" target="blank">lutaric acidemia</a> Glucocorticoid remedial aldosteronism Gonadotropin-releasing hormone insensitivity Gout, severe and recurrent cases H<a href="http://en.wikipedia.org/wiki/Hereditary_CNS_demyelinating_disease" target="blank">ereditary CNS demyelinating disease</a> H<a href="http://en.wikipedia.org/wiki/Hunter_syndrome" target="blank">unter syndrome</a> H<a href="http://en.wikipedia.org/wiki/Hurler_Syndrome" target="blank">urler Syndrome</a> H<a href="https://en.wikipedia.org/wiki/Hartnup_disease" target="blank">artnup disease</a> H<a href="https://en.wikipedia.org/wiki/Hawkinsinuria" target="blank">awkinsinuria H<a href="https://en.wikipedia.org/wiki/Hemophilia" target="blank">emophilia</a> H<a href="https://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome" target="blank">ermansky–Pudlak syndrome</a> H<a href="https://en.wikipedia.org/wiki/Homocystinuria" target="blank">omocystinuria</a> H<a href="https://en.wikipedia.org/wiki/Hyperargininemia" target="blank">yperargininemia</a> H<a href="https://en.wikipedia.org/wiki/Hyperlysinemias" target="blank">yperlysinemias</a> H<a href="https://en.wikipedia.org/wiki/Hypermethioninemia" target="blank">ypermethioninemia</a> H<a href="https://en.wikipedia.org/wiki/Hyperprolinemia" target="blank">yperprolinemia</a> H<a href="https://en.wikipedia.org/wiki/Hypoalphalipoproteinemia" target="blank">ypo-alpha-lipoproteinemia</a> Hashimoto’s thyroiditis, refractory cases Hereditary coproporphyria Hereditary Fructose intolerance Hexosaminidase A Deficiency Hyperoxaluria/ Bird’s disease I<a href="https://en.wikipedia.org/wiki/Iminoglycinuria" target="blank">minoglycinuria</a> Inborn errors of steroid metabolism Infantile Free Sialic Acid Storage Disease Interstitial lung disease Intractable wound healing Ionizing radiation injury Isobutyryl-CoA dehydrogenase deficiency Isolated 17,20-lyase deficiency J<a href="" target="blank">uvenile arthritis</a> J<a href="http://en.wikipedia.org/wiki/Jansky-Bielschowsky_disease" target="blank">ansky-Bielschowsky disease</a> Juvenile Hexosaminidase A Deficiency K<a href="http://en.wikipedia.org/wiki/Krabbe_disease" target="blank">rabbe disease</a> Kernicterus- Bilirubin encephalopathy L<a href="http://en.wikipedia.org/wiki/Lysosomal_acid_lipase_deficiency" target="blank">ysosomal acid lipase deficiency</a> L<a href="https://en.wikipedia.org/wiki/Hereditary_fructose_intolerance" target="blank">actose intolerance</a> L<a href="https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance" target="blank">ysinuric protein intolerance</a> Leber's congenital amaurosis Lipoid congenital adrenal hyperplasia Lysosomal storage disease M<a href="https://en.wikipedia.org/wiki/Malonyl-CoA_decarboxylase_deficiency" target="blank">alonyl-CoA decarboxylase deficiency</a> M<a href="https://en.wikipedia.org/wiki/Maple_syrup_urine_disease" target="blank">aple syrup urine disease</a> M<a href="https://en.wikipedia.org/wiki/Maroteaux-Lamy" target="blank">aroteaux-Lamy syndrome</a> M<a href="https://en.wikipedia.org/wiki/Metachromatic_Leukodystrophy" target="blank">etachromatic Leukodystrophy</a> M<a href="https://en.wikipedia.org/wiki/Methylmalonic_acidemia" target="blank">ethylmalonic acidemia</a> M<a href="https://en.wikipedia.org/wiki/Methylmalonyl-CoA_mutase_deficiency" target="blank">ethylmalonyl-CoA mutase deficiency</a> M<a href="https://en.wikipedia.org/wiki/Morquio_syndrome" target="blank">orquio syndrome</a> M<a href="https://en.wikipedia.org/wiki/Mucolipidosis" target="blank">ucolipidosis (all types)</a> M<a href="https://en.wikipedia.org/wiki/Mucopolysaccharidosis" target="blank">ucopolysaccharidoses disorders</a> M<a href="https://en.wikipedia.org/wiki/Multiple_sulfatase_deficiency" target="blank">ultiple sulfatase deficiency</a> Mevalonate kinase deficiency/aciduria Mitochondrial trifunctional protein deficiency N<a href="https://en.wikipedia.org/wiki/Glycine_encephalopathy" target="blank">onketotic hyperglycinemia</a> N<a href="https://en.wikipedia.org/wiki/N-Acetylglutamate_synthase_deficiency" target="blank">-Acetylglutamate synthase deficiency</a> N<a href="https://en.wikipedia.org/wiki/Neuronal_Ceroid_Lipofuscinoses" target="blank">euronal Ceroid Lipofuscinoses</a> N<a href="https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease" target="blank">iemann-Pick Disease</a> Neonatal adrenoleukodystrophy Nephropathy/Glomeronephritis Neurological Visual Impairment Northern Epilepsy syndrome O<a href="https://en.wikipedia.org/wiki/Ocular_albinism" target="blank">cular albinism</a> O<a href="https://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency" target="blank">rnithine transcarbamylase deficiency</a> P<a href="http://en.wikipedia.org/wiki/Pompe_disease" target="blank">ompe’s disease</a> P<a href="https://en.wikipedia.org/wiki/Delta-aminolevulinic_acid_dehydratase" target="blank">orphobilinogen synthase Deficiency</a> P<a href="https://en.wikipedia.org/wiki/Polymyositis" target="blank">olymyositis</a> P<a href="https://en.wikipedia.org/wiki/Primary_carnitine_deficiency" target="blank">rimary carnitine deficiency</a> P<a href="https://en.wikipedia.org/wiki/Propionic_acidemia" target="blank">ropionic acidemia</a> P<a href="https://en.wikipedia.org/wiki/Psoriatic_arthritis" target="blank">soriatic arthritis</a> P<a href="https://en.wikipedia.org/wiki/Pycnodysostosis" target="blank">ycnodysostosis</a> Pelizaeus–Merzbacher disease Peripheral arterial diseases Periventricular leukomalacia Peroxisome biogenesis disorders Pervasive developmental disorder Pipecolic acedemia/ Hyperpipecolatemia Primary biliary cirrhosis Progressive supranuclear palsy Pseudo-Hurler polydystrophy R<a href="https://en.wikipedia.org/wiki/Aldolase_A_deficiency" target="blank">ed cell aldolase deficiency</a> R<a href="https://en.wikipedia.org/wiki/Reactive_arthritis" target="blank">eiter's syndrome</a> R<a href="https://en.wikipedia.org/wiki/Rheumatoid_arthritis" target="blank">heumatoid arthritis</a> Radiation induced lung injury Radiation injuries (Post radiation injuries) Reactive arthritis, Reiter’s sd Rhizomelic chondrodysplasia punctata S<a href="http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus" target="blank">ystemic lupus erythematosus</a> S<a href="https://en.wikipedia.org/wiki/Saccharopinuria" target="blank">accharopinuria</a> S<a href="https://en.wikipedia.org/wiki/Salla_disease" target="blank">alla disease</a> S<a href="https://en.wikipedia.org/wiki/Sandhoff_disease" target="blank">andhoff disease</a> S<a href="https://en.wikipedia.org/wiki/Sanfilippo_syndrome" target="blank">anfilippo syndrome</a> S<a href="https://en.wikipedia.org/wiki/Scheie_syndrome" target="blank">cheie Syndrome</a> S<a href="https://en.wikipedia.org/wiki/Scleroderma" target="blank">cleroderma</a> S<a href="https://en.wikipedia.org/wiki/Sialidosis" target="blank">ialidosis</a> S<a href="https://en.wikipedia.org/wiki/Sj%C3%B6gren_syndrome" target="blank">jögren syndrome</a> S<a href="https://en.wikipedia.org/wiki/Sly_syndrome" target="blank">ly Syndrome</a> Santavuori-Haltia syndrome T<a href="https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease" target="blank">ay-Sachs disease</a> T<a href="https://en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency" target="blank">etrahydrobiopterin deficiency</a> T<a href="https://en.wikipedia.org/wiki/Trimethylaminuria" target="blank">rimethylaminuria/ fish odor syndrome</a> T<a href="https://en.wikipedia.org/wiki/Tyrosinemia" target="blank">yrosinemia</a> V<a href="https://en.wikipedia.org/wiki/Von_Willebrand_disease" target="blank">on Willebrand disease</a> Vitelliform macular dystrophy W<a href="http://en.wikipedia.org/wiki/Wolman_disease" target="blank">olman disease</a> W<a href="https://en.wikipedia.org/wiki/Waardenburg_syndrome" target="blank">aardenburg syndrome</a> Werdnig-Hoffman disease (SMA) X-linked adrenoleukodystrophy
