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Entry Name Description Category Pathway Gene
H00003 Acute myeloid leukemia ... have been described that are crucial for leukemic transformation. A proposed necessary first event is disordered cell growth and upregulation of cell survival genes. The most common of these activating events ... Cancer hsa05221 Acute myeloid leukemia PML-RARalpha (translocation) [HSA:5371] [KO:K10054]
AML1-ETO (translocation) [HSA:861] [KO:K08367]
PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055]
FLT3 [HSA:2322] [KO:K05092]
KIT [HSA:3815] [KO:K05091]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
AML1 [HSA:861] [KO:K08367]
CEBPA [HSA:1050] [KO:K09055]
CBFB [HSA:865] [KO:K25826]
CHIC2 [HSA:26511]
DNMT3A [HSA:1788] [KO:K17398]
ETV6 [HSA:2120] [KO:K03211]
GATA2 [HSA:2624] [KO:K17894]
JAK2 [HSA:3717] [KO:K04447]
LPP [HSA:4026] [KO:K16676]
MLLT10 [HSA:8028] [KO:K23588]
NPM1 [HSA:4869] [KO:K11276]
NUP214 [HSA:8021] [KO:K14317]
PICALM [HSA:8301] [KO:K20044]
SH3GL1 [HSA:6455] [KO:K11247]
TERT [HSA:7015] [KO:K11126]
H00004 Chronic myeloid leukemia Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP) ... Cancer hsa05220 Chronic myeloid leukemia BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619]
MECOM (overexpression) [HSA:2122] [KO:K04462]
RUNX1 (translocation) [HSA:861] [KO:K08367]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
H00006 Hairy cell leukemia Hairy cell Leukemia (HCL) is a chronic lymphoproliferative disorder that is defined, according to the WHO classification, as a mature (peripheral) B-cell neoplasm. HCL accounts for between 2-3% of all ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
Bcl-6 (mutation) [HSA:604] [KO:K15618]
Cyclin D1 (overexpression) [HSA:595] [KO:K04503]
H00010 Multiple myeloma Multiple myeloma is a disorder in which malignant plasma cells accumulate, generally derived from one clone in the bone marrow. Intricate interactions occur between the bone-marrow microenvironment and ... Cancer CCND1-IgH (translocation) [HSA:595] [KO:K04503]
CCND3-IgH (translocation) [HSA:896] [KO:K10152]
IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094]
IgH-MMSET (translocation) [HSA:7468] [KO:K11424]
IgH-MAF (translocation) [HSA:4094] [KO:K09035]
N-ras (activating mutation) [HSA:4893] [KO:K07828]
K-ras (activating mutation) [HSA:3845] [KO:K07827]
c-MYC (dysregulation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
H00012 Polycythemia vera ... proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative disorders (MPD), which includes hematological diseases that share clinical and biological similarities ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00057 Parkinson disease Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00058 Amyotrophic lateral sclerosis (ALS)
Lou Gehrig disease 		Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with ... Neurodegenerative disease hsa05014 Amyotrophic lateral sclerosis (ALS1) SOD1 [HSA:6647] [KO:K04565]
(ALS1) NEFH [HSA:4744] [KO:K04574]
(ALS1) PRPH [HSA:5630] [KO:K07607]
(ALS1) DCTN1 [HSA:1639] [KO:K04648]
(ALS2) ALS2 [HSA:57679] [KO:K04575]
(ALS4) SETX [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS [HSA:2521] [KO:K13098]
(ALS8) VAPB [HSA:9217] [KO:K10707]
(ALS9) ANG [HSA:283] [KO:K16631]
(ALS10) TARDBP [HSA:23435] [KO:K23600]
(ALS11) FIG4 [HSA:9896] [KO:K22913]
(ALS12) OPTN [HSA:10133] [KO:K19946]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS18) PFN1 [HSA:5216] [KO:K05759]
(ALS19) ERBB4 [HSA:2066] [KO:K05085]
(ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
(ALS21) MATR3 [HSA:9782] [KO:K13213]
(ALS22) TUBA4A [HSA:7277] [KO:K07374]
(ALS23) ANXA11 [HSA:311] [KO:K17095]
(ALS24) NEK1 [HSA:4750] [KO:K08857]
(ALS25) KIF5A [HSA:3798] [KO:K10396]
(ALS26) TIA1 [HSA:7072] [KO:K13201]
(ALS27) SPTLC1 [HSA:10558] [KO:K00654]
(ALS28) LRP12 [HSA:29967] [KO:K20050]
(ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
(ALSPDC) MAPT [HSA:4137] [KO:K04380]
H00059 Huntington disease Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes ... Neurodegenerative disease hsa05016 Huntington disease (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533]
H00064 Ataxia telangiectasia
Louis-Bar syndrome
Boder-Sedgwick syndrome 		Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous ... Immune system disease; Nervous system disease (AT) ATM [HSA:472] [KO:K04728]
H00065 Alexander disease Alexander disease is a rare, but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological ... Neurodegenerative disease GFAP (mutation) [HSA:2670] [KO:K05640]
H00068 Leber hereditary optic atrophy
Leber optic atrophy 		... genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral ... Nervous system disease ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
CYTB [HSA:4519] [KO:K00412]
COX1 [HSA:4512] [KO:K02256]
COX3 [HSA:4514] [KO:K02262]
ATP6 [HSA:4508] [KO:K02126]
H00069 Glycogen storage disease ... disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme ... Inherited metabolic disorder (GSD1A) G6PC1 [HSA:2538] [KO:K01084]
(GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171]
(GSD2) GAA [HSA:2548] [KO:K12316]
(GSD3) AGL [HSA:178] [KO:K01196]
(GSD4) GBE1 [HSA:2632] [KO:K00700]
(GSD5) PYGM [HSA:5837] [KO:K00688]
(GSD6) PYGL [HSA:5836] [KO:K00688]
(GSD7) PFKM [HSA:5213] [KO:K00850]
(GSD9A) PHKA2 [HSA:5256] [KO:K07190]
(GSD9B) PHKB [HSA:5257] [KO:K07190]
(GSD9C) PHKG2 [HSA:5261] [KO:K00871]
(GSD9D) PHKA1 [HSA:5255] [KO:K07190]
(GSD10) PGAM2 [HSA:5224] [KO:K01834]
(GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593]
(GSD11) LDHA [HSA:3939] [KO:K00016]
(GSD12) ALDOA [HSA:226] [KO:K01623]
(GSD13) ENO3 [HSA:2027] [KO:K01689]
(GSD14) PGM1 [HSA:5236] [KO:K01835]
(GSD15) GYG1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2 [HSA:51422] [KO:K07200]
(GSD0A) GYS2 [HSA:2998] [KO:K00693]
(GSD0B) GYS1 [HSA:2997] [KO:K00693]
H00070 Galactosemia Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar ... Inherited metabolic disorder (GALAC1) GALT [HSA:2592] [KO:K00965]
(GALAC2) GALK1 [HSA:2584] [KO:K00849]
(GALAC3) GALE [HSA:2582] [KO:K01784]
(GALAC4) GALM [HSA:130589] [KO:K01785]
H00071 Hereditary fructose intolerance
Fructosemia 		Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney ... Inherited metabolic disorder ALDOB [HSA:229] [KO:K01623]
H00072 Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H00073 Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate. Inherited metabolic disorder PC [HSA:5091] [KO:K01958]
H00074 Canavan disease Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus ... Inherited metabolic disorder ASPA [HSA:443] [KO:K01437]
H00075 Refsum disease
Heredopathia atactica polyneuritiformis 		Refsum disease (RD) is an autosomal recessive sensory motor neuropathy characterized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations ... Inherited metabolic disorder, Peroxisomal disease PHYH [HSA:5264] [KO:K00477]
PEX7 [HSA:5191] [KO:K13341]
H00076 Cockayne syndrome Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing ... Neurodegenerative disease (CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB) ERCC6 [HSA:2074] [KO:K10841]
(XPB/CS) ERCC3 [HSA:2071] [KO:K10843]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS) ERCC5 [HSA:2073] [KO:K10846]
H00081 Hashimoto thyroiditis ... marked reduction of metabolic activity in various cells and tissues. AITDs are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental ... Immune system disease CTLA4 [HSA:1493] [KO:K06538]
H00082 Graves disease ... relative to thyroxine (T4) in thyroid secretion. Thyroid autoimmune diseases are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental ... Immune system disease
H00088 Common variable immunodeficiency ... hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group of disorders involving both B-cell and T-cell immune function, the predominant manifestation of which is hypogammaglobulinemia ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00091 T-B+Severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi) ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00092 T-B-Severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi) ... Primary immunodeficiency ADA [HSA:100] [KO:K01488]
RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
PRKDC [HSA:5591] [KO:K06642]
H00094 Immunodeficiency associated with DNA repair defects A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are ... Primary immunodeficiency ATM [HSA:472] [KO:K04728]
MRE11A [HSA:4361] [KO:K10865]
NBS1(Nibrin) [HSA:4683] [KO:K10867]
LIG1 [HSA:3978] [KO:K10747]
LIG4 [HSA:3981] [KO:K10777]
BLM [HSA:641] [KO:K10901]
MCM4 [HSA:4173] [KO:K02212]
(LICS) NSMCE3 [HSA:56160] [KO:K22823]
H00095 Ectodermal dysplasia and immunodeficiency Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00099 Leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00100 Neutropenic disorders Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... Primary immunodeficiency (SCN1) ELANE [HSA:1991] [KO:K01327]
(SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
(SCN3) HAX1 [HSA:10456] [KO:K16220]
(SCN4) G6PC3 [HSA:92579] [KO:K01084]
(SCN5) VPS45 [HSA:11311] [KO:K12479]
(SCN6) JAGN1 [HSA:84522] [KO:K25789]
(SCN7) CSF3R [HSA:1441] [KO:K05061]
(SCN8) SRP54 [HSA:6729] [KO:K03106]
(SCN9) CLPB [HSA:81570] [KO:K03695]
(SCN10) SRP68 [HSA:6730] [KO:K03107]
(SCN11) SEC61A1 [HSA:29927] [KO:K10956]
(SCNX) WAS [HSA:7454] [KO:K05747]
H00101 Other phagocyte defects Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports ... Primary immunodeficiency
H00102 Classic complement pathway component defects Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... Primary immunodeficiency (C1QD1) C1QA [HSA:712] [KO:K03986]
(C1QD2) C1QB [HSA:713] [KO:K03987]
(C1QD3) C1QC [HSA:714] [KO:K03988]
(C1SD) C1S [HSA:716] [KO:K01331]
(C2D) C2 [HSA:717] [KO:K01332]
(C3D) C3 [HSA:718] [KO:K03990]
(C4AD) C4A [HSA:720] [KO:K03989]
(C4BD) C4B [HSA:721] [KO:K03989]
H00105 Mannose-binding lectin pathway component defects
Lectin complement activation pathway, defect in (LCAPD) 		... been associated with an increased risk, severity, and frequency of infections but also autoimmune disorders. MBL deficiency is one of the most common human immunodeficiencies and arises primarily from ... Primary immunodeficiency (LCAPD1) MBL2 [HSA:4153] [KO:K03991]
(LCAPD2) MASP2 [HSA:10747] [KO:K03993]
(LCAPD3) FCN3 [HSA:8547] [KO:K10104]
H00106 Complement regulatory protein defects ... high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. Only a single case of CD59 deficiency has been reported and this individual ... Primary immunodeficiency SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
CFI [HSA:3426] [KO:K01333]
CD55 [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
H00107 Other well-defined immunodeficiency syndromes ... have been identified in WAS patients. DiGeorge/velocardiofacial syndrome (DGS) is a congenital immune disorder characterized by lack of embryonic development or underdevelopment of the thymus and surrounding ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00108 Autoimmune lymphoproliferative syndromes Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes ... Primary immunodeficiency (ALPS1A) FAS [HSA:355] [KO:K04390]
(ALPS1B) FASLG [HSA:356] [KO:K04389]
(ALPS2A) CASP10 [HSA:843] [KO:K04400]
(ALPS2B) CASP8 [HSA:841] [KO:K04398]
(ALPS3) PRKCD [HSA:5580] [KO:K06068]
(ALPS4) NRAS [HSA:4893] [KO:K07828]
(ALPS5) CTLA4 [HSA:1493] [KO:K06538]
H00109 Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen ... Primary immunodeficiency (FHL2) PRF1 [HSA:5551] [KO:K07818]
(FHL3) UNC13D [HSA:201294] [KO:K19728]
(FHL4) STX11 [HSA:8676] [KO:K08487]
(FHL5) STXBP2 [HSA:6813] [KO:K15300]
(FHL6) RC3H1 [HSA:149041] [KO:K15690]
H00114 Fructose-1,6-bisphosphatase deficiency Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by a defect in FBP1 gene and characterized by impaired gluconeogenesis. Inherited metabolic disorder FBP1 [HSA:2203] [KO:K03841]
H00115 Congenital sucrase-isomaltase deficiency
Disaccharide intolerance I 		Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch. Inherited metabolic disorder (CSID) SI [HSA:6476] [KO:K01203]
H00116 Congenital lactase deficiency
Disaccharide intolerance II 		Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose. Inherited metabolic disorder LCT [HSA:3938] [KO:K01229]
H00117 Primary hyperoxaluria Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate. Inherited metabolic disorder (HP1) AGXT [HSA:189] [KO:K00830]
(HP2) GRHPR [HSA:9380] [KO:K00049]
(HP3) HOGA1 [HSA:112817] [KO:K18123]
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