H00286  Crohn disease [PATH:hsa04621 hsa04060 hsa04630 hsa05321 hsa04140]
     H01466  Ulcerative colitis [PATH:hsa04060 hsa04630 hsa05321]
     H01227  Inflammatory bowel disease (IBD) [PATH:hsa04612 hsa04060 hsa04630 hsa05321 hsa04140]
     H00285  Blau syndrome [PATH:hsa04621]
     H01309  Sarcoidosis, early-onset [PATH:hsa04621]
     H00287  Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome [PATH:hsa04621]
     H00288  Familial Mediterranean fever [PATH:hsa04621]
     H00282  Cryopyrin associated periodic syndrome [PATH:hsa04621]
     H00290  Aicardi-Goutieres syndrome [PATH:hsa04623 hsa03030 hsa04622]
     H00291  Familial chilblain lupus (FCL) [PATH:hsa04623]
     H00206  Mevalonate kinase deficiency [PATH:hsa00900]
     H00912  Tumor necrosis factor receptor-associated periodic syndrome [PATH:hsa04010 hsa04060 hsa04210]
     H01094  Eosinophil peroxidase deficiency [PATH:hsa05310]
     H01109  Chronic mucocutaneous candidiasis [PATH:hsa04621 hsa04145 hsa04060 hsa04062 hsa04620 hsa04630]
     H01117  Chronic recurrent multifocal osteomyelitis [PATH:hsa00561 hsa00564]
     H01136  Carboxypeptidase N deficiency
     H01491  Neuromyelitis optica
     H01527  Chronic inflammatory demyelinating polyradiculoneuropathy
     H01689  Fisher syndrome
     H01698  Giant cell arteritis
     H01724  HTLV1-associated myelopathy [PATH:hsa05166]
     H01741  Autoinflammation lipodystrophy and dermatosis syndrome [PATH:hsa03050]
     H01743  Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation [PATH:hsa04064]
     H01744  Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis [PATH:hsa04621]
     H01746  STING-associated vasculopathy with onset in infancy [PATH:hsa04621 hsa04622 hsa04623]
     H01748  Autoinflammation with infantile enterocolitis [PATH:hsa04621]
     H01761  Immunoglobulin G4-related disease
     H01765  Eosinophilic sinusitis
     H01767  Henoch-Schonlein purpura nephritis
     H01812  Rasmussen encephalitis [PATH:hsa04660]
     H01842  Bickerstaff brainstem encephalitis
     H01924  Sydenham chorea
     H02133  Vici syndrome
     H02467  Neonatal inflammatory skin and bowel disease
     H02484  X-linked reticulate pigmentary disorder with systemic manifestations

     H00149  Neuronal ceroid lipofuscinosis [PATH:hsa00062 hsa04142]
     H02275  Batten disease [PATH:hsa04142]
     H02276  Kufs disease [PATH:hsa04141 hsa04142]
     H02277  Santavuori-Haltia disease [PATH:hsa01212 hsa00062 hsa04142]
     H02278  Jansky-Bielschowsky disease
     H02279  Cathepsin D deficiency [PATH:hsa04142 hsa04210 hsa04140]
     H00407  Peroxisomal beta-oxidation enzyme deficiency [PATH:hsa00120 hsa01040 hsa03320 hsa04146]
     H00176  Adrenoleukodystrophy [PATH:hsa02010 hsa04146]
     H00152  Sitosterolemia [PATH:hsa02010]
     H00153  Familial combined hyperlipidemia
     H00151  Cerebrotendinous xanthomatosis [PATH:hsa00120 hsa03320]
     H00155  Familial hypercholesterolemia [PATH:hsa04976 hsa04144]
     H00154  Hyperlipoproteinemia, type I [PATH:hsa00561 hsa03320]
     H01383  Hyperlipoproteinemia type IIa [PATH:hsa04144 hsa04913 hsa04976]
     H00156  Hyperlipoproteinemia, type III
     H00157  Hyperlipoproteinemia, type V [PATH:hsa03320]
     H01637  Hypertriglyceridemia
     H00158  Lecithin:cholesterol acyltransferase deficiency [PATH:hsa00564]
     H00159  Tangier disease [PATH:hsa02010]
     H00160  Abetalipoproteinemia
     H00161  Smith-Lemli-Opitz syndrome [PATH:hsa00100]
     H00162  Sjogren-Larsson syndrome [PATH:hsa00071]
     H00736  Dorfman-Chanarin syndrome [PATH:hsa04923]
     H00148  Lysosomal acid lipase deficiency [PATH:hsa00100 hsa04142]
     H00134  X-linked ichthyosis [PATH:hsa00140]
     H00125  Fabry disease [PATH:hsa00600 hsa00603 hsa04142]
     H00126  Gaucher disease [PATH:hsa00511 hsa00600 hsa04142]
     H00135  Krabbe disease [PATH:hsa00600 hsa04142]
     H00137  Niemann-Pick disease type A/B [PATH:hsa00600 hsa04142]
     H00138  Farber lipogranulomatosis [PATH:hsa00600 hsa04142]
     H00127  Metachromatic leukodystrophy [PATH:hsa00600 hsa04142]
     H00272  Multiple sulfatase deficiency [PATH:hsa04142]
     H00281  GM1 gangliosidosis [PATH:hsa00511 hsa00531 hsa00600 hsa00604 hsa04142]
     H00124  GM2 gangliosidoses [PATH:hsa00511 hsa00531 hsa00603 hsa00604 hsa04142]
     H02016  Tay-Sachs disease [PATH:hsa00531 hsa00511]
     H02017  Sandhoff disease [PATH:hsa00531 hsa00511]
     H00144  Mucolipidosis IV [PATH:hsa04142]
     H00146  Alpha-N-acetylgalactosaminidase deficiency [PATH:hsa00603 hsa04142]
     H00206  Mevalonate kinase deficiency [PATH:hsa00900]
     H00525  Disorders of mitochondrial fatty-acid oxidation [PATH:hsa00071]
     H01980  SCAD deficiency [PATH:hsa00071 hsa01212]
     H00488  MCAD deficiency [PATH:hsa00071 hsa01212]
     H00489  LCHAD deficiency
     H00392  VLCAD deficiency [PATH:hsa00071 hsa01212]
     H00375  SBCAD deficiency [PATH:hsa00071 hsa00280 hsa01212]
     H01981  Carnitine palmitoyltransferase I deficiency [PATH:hsa00071 hsa01212]
     H01982  Carnitine palmitoyltransferase II deficiency [PATH:hsa00071 hsa01212]
     H01983  Carnitine-acylcarnitine translocase deficiency
     H00438  Nasu-Hakola disease [PATH:hsa04380]
     H00552  Chromosome Xp21 deletion syndrome
     H02013  Glycerol kinase deficiency [PATH:hsa00561 hsa03320]
     H00679  Hypomyelinating leukodystrophy
     H00869  Leukoencephalopathy with vanishing white matter [PATH:hsa03013]
     H02200  Leukoencephalopathy, progressive, with ovarian failure
     H00871  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [PATH:hsa00970]
     H00874  Leukoencephalopathy with dystonia and motor neuropathy [PATH:hsa00120 hsa03320 hsa04146]
     H00875  Megaloencephalic leukoencephalopathy with subcortical cysts
     H00878  Cystic leukoencephalopathy without megalencephaly
     H00883  Lipoid proteinosis
     H00887  Lipoprotein glomerulopathy
     H00927  Chylomicron retention disease [PATH:hsa04141]
     H00930  Hypoalphalipoproteinemia [PATH:hsa02010 hsa03320 hsa04975 hsa04977]
     H01065  Pentosuria [PATH:hsa00040]
     H01101  Combined lipase deficiency
     H01126  Familial renal glucosuria
     H01489  Inherited glycosylphosphatidylinositol deficiencies [PATH:hsa00563]
     H01127  PIGM-congenital disorder of glycosylation [PATH:hsa00563]
     H01485  Autosomal recessive mental retardation-42 [PATH:hsa00563]
     H01486  Multiple congenital anomalies-hypotonia-seizures syndrome [PATH:hsa00563]
     H01487  CHIME syndrome [PATH:hsa00563]
     H01488  Hyperphosphatasia with mental retardation syndrome [PATH:hsa00563]
     H01189  Transaldolase deficiency [PATH:hsa00030]
     H01199  Hyperalphalipoproteinemia [PATH:hsa03320]
     H01290  Acute recurrent myoglobinuria [PATH:hsa00561 hsa00564]
     H01297  Neutral lipid storage disease with myopathy [PATH:hsa04923]
     H01589  Systemic primary carnitine deficiency
     H01661  Xanthoma
     H01784  Primary hyperchylomicronemia
     H01918  Familial autosomal recessive hypercholesterolemia [PATH:hsa04144]
     H02284  Leukotriene C4 synthase deficiency [PATH:hsa00590]
     H02329  Hepatic lipase deficiency [PATH:hsa04979 hsa00561]
     H02330  Pancreatic lipase deficiency [PATH:hsa04977 hsa04972 hsa00561 hsa04975]
     H02432  Butyrylcholinesterase deficiency
     H02468  Early childhood-onset progressive leukodystrophy [PATH:hsa00600]