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Entry Name Description Category Pathway Gene
H00830 Alveolar capillary dysplasia with misalignment of pulmonary veins ... developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN). FOXF1 is pathogenic for ACD/MPV and most of the cases have been reported to occur sporadically. Respiratory system disease FOXF1 [HSA:2294] [KO:K09399]
H00852 Klippel-Feil syndrome ... otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS ... Congenital malformation (KFS1) GDF6 [HSA:392255] [KO:K20012]
(KFS2) MEOX1 [HSA:4222] [KO:K09322]
(KFS3) GDF3 [HSA:9573] [KO:K22672]
(KFS4) MYO18B [HSA:84700] [KO:K10362]
H00865 Lethal congenital contractural syndrome ... recessive manner. It has a worldwide incidence, but it is more common in isolated populations, such as Finland and the Bedouin community in Israel. Several mutations associated with LCCS have been reported. Congenital malformation (LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
(LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
(LCCS5) DNM2 [HSA:1785] [KO:K23484]
(LCCS6) ZBTB42 [HSA:100128927] [KO:K23196]
(LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
(LCCS8) ADCY6 [HSA:112] [KO:K08046]
(LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
(LCCS10) NEK9 [HSA:91754] [KO:K20878]
(LCCS11) GLDN [HSA:342035] [KO:K16364]
H00866 Trichothiodystrophy ... characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported. Skin disease (TTD1) ERCC2 [HSA:2068] [KO:K10844]
(TTD2) ERCC3 [HSA:2071] [KO:K10843]
(TTD3) GTF2H5 [HSA:404672] [KO:K10845]
(TTD4) MPLKIP [HSA:136647] [KO:K24575]
(TTD5) RNF113A [HSA:7737] [KO:K13127]
(TTD6) GTF2E2 [HSA:2961] [KO:K03137]
(TTD7) TARS1 [HSA:6897] [KO:K01868]
(TTD8) AARS1 [HSA:16] [KO:K01872]
(TTD9) MARS1 [HSA:4141] [KO:K01874]
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts ... present in infancy with megalencephaly. An autosomal recessive mutations in the MLC1 gene have been shown to cause this condition. Recently, mutations in HEPACAM gene are reported to be associated with MLC. Nervous system disease (MLC1) MLC1 [HSA:23209] [KO:K20070]
(MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116]
(MLC3) GPRC5B [HSA:51704] [KO:K04619]
(MLC4) AQP4 [HSA:361] [KO:K09866]
H00882 Cocoon syndrome ... face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential role in the development ... Congenital malformation CHUK [HSA:1147] [KO:K04467]
H00891 Combined oxidative phosphorylation deficiency ... manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It has been reported that the mutations in the ribosomal protein gene (MRPS) cause severe antenatal-onset infantile ... Inherited metabolic disorder, Mitochondrial disease (COXPD1) GFM1 [HSA:85476] [KO:K02355]
(COXPD2) MRPS16 [HSA:51021] [KO:K02959]
(COXPD3) TSFM [HSA:10102] [KO:K02357]
(COXPD4) TUFM [HSA:7284] [KO:K02358]
(COXPD5) MRPS22 [HSA:56945] [KO:K17401]
(COXPD6) AIFM1 [HSA:9131] [KO:K04727]
(COXPD7) MTRFR [HSA:91574] [KO:K23498]
(COXPD8) AARS2 [HSA:57505] [KO:K01872]
(COXPD9) MRPL3 [HSA:11222] [KO:K02906]
(COXPD10) MTO1 [HSA:25821] [KO:K03495]
(COXPD11) RMND1 [HSA:55005] [KO:K23499]
(COXPD12) EARS2 [HSA:124454] [KO:K01885]
(COXPD13) PNPT1 [HSA:87178] [KO:K00962]
(COXPD14) FARS2 [HSA:10667] [KO:K01889]
(COXPD15) MTFMT [HSA:123263] [KO:K00604]
(COXPD16) MRPL44 [HSA:65080] [KO:K17425]
(COXPD17) ELAC2 [HSA:60528] [KO:K00784]
(COXPD18) SFXN4 [HSA:119559] [KO:K23502]
(COXPD19) LYRM4 [HSA:57128] [KO:K22069]
(COXPD20) VARS2 [HSA:57176] [KO:K01873]
(COXPD21) TARS2 [HSA:80222] [KO:K01868]
(COXPD22) ATP5F1A [HSA:498] [KO:K02132]
(COXPD23) GTPBP3 [HSA:84705] [KO:K03650]
(COXPD24) NARS2 [HSA:79731] [KO:K01893]
(COXPD25) MARS2 [HSA:92935] [KO:K01874]
(COXPD26) TRMT5 [HSA:57570] [KO:K15429]
(COXPD27) CARS2 [HSA:79587] [KO:K01883]
(COXPD28) SLC25A26 [HSA:115286] [KO:K15111]
(COXPD29) TXN2 [HSA:25828] [KO:K03671]
(COXPD30) TRMT10C [HSA:54931] [KO:K17654]
(COXPD31) MIPEP [HSA:4285] [KO:K01410]
(COXPD32) MRPS34 [HSA:65993] [KO:K17412]
(COXPD33) C1QBP [HSA:708] [KO:K15414]
(COXPD34) MRPS7 [HSA:51081] [KO:K02992]
(COXPD35) TRIT1 [HSA:54802] [KO:K00791]
(COXPD36) MRPS2 [HSA:51116] [KO:K02967]
(COXPD37) MICOS13 [HSA:125988] [KO:K24624]
(COXPD38) MRPS14 [HSA:63931] [KO:K02954]
(COXPD39) GFM2 [HSA:84340] [KO:K02355]
(COXPD40) QRSL1 [HSA:55278] [KO:K02433]
(COXPD41) GATB [HSA:5188] [KO:K02434]
(COXPD42) GATC [HSA:283459] [KO:K02435]
(COXPD43) TIMM22 [HSA:29928] [KO:K17790]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(COXPD45) MRPL12 [HSA:6182] [KO:K02935]
(COXPD46) MRPS23 [HSA:51649] [KO:K17402]
(COXPD47) MRPS28 [HSA:28957] [KO:K17407]
(COXPD48) NSUN3 [HSA:63899] [KO:K21969]
(COXPD49) MIEF2 [HSA:125170] [KO:K23507]
(COXPD50) MRPS25 [HSA:64432] [KO:K17404]
(COXPD51) PTCD3 [HSA:55037] [KO:K17659]
(COXPD52) NFS1 [HSA:9054] [KO:K04487]
(COXPD53) C2orf69 [HSA:205327]
(COXPD54) PRORP [HSA:9692] [KO:K17655]
(COXPD55) POLRMT [HSA:5442] [KO:K10908]
(COXPD56) TAMM41 [HSA:132001] [KO:K17807]
(COXPD57) CRLS1 [HSA:54675] [KO:K08744]
(COXPD58) TEFM [HSA:79736] [KO:K17658]
(COXPD59) MRPL39 [HSA:54148] [KO:K17420]
H00893 Cardiomyopathy, dilated, with woolly hair and keratoderma ... with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported. Congenital malformation DSP [HSA:1832] [KO:K10381]
H00897 Pontocerebellar hypoplasia ... progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons ... Congenital malformation (PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
H00898 Myopathy with lactic acidosis and sideroblastic anaemia
Mitochondrial myopathy and sideroblastic anemia
Hereditary myopathy with lactic acidosis (HML) 		... positions and increases the efficiency of protein synthesis in both compartments. Recently, it has been reported that a mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, also causes MLASA. ... Inherited metabolic disorder (MLASA1) PUS1 [HSA:80324] [KO:K06173]
(MLASA2) YARS2 [HSA:51067] [KO:K01866]
(HML) ISCU [HSA:23479] [KO:K22068]
H00902 Speech-language disorder 1 ... autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized by impaired speech development ... Mental and behavioural disorder FOXP2 [HSA:93986] [KO:K09409]
H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis
MACS syndrome 		... gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported. Congenital malformation RIN2 [HSA:54453] [KO:K23687]
H00907 Kleefstra syndrome
Chromosome 9q34.3 deletion syndrome
9q Subtelomeric deletion syndrome 		... syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported. Congenital malformation (KLEFS1) EHMT1 [HSA:79813] [KO:K11420]
(KLEFS2) KMT2C [HSA:58508] [KO:K09188]
H00911 Dicarboxylic aminoaciduria ... the kidney. DA is generally considered to be a benign disorder, but cases with mental retardation have been reported as well. Homozygous loss-of-function mutations in SLC1A1 could be associated with DA. Inherited metabolic disorder SLC1A1 [HSA:6505] [KO:K05612]
H00918 Double-outlet right ventricle ... Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans. Cardiovascular disease NKX2-5 [HSA:1482] [KO:K09345]
CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]
H00923 Congenital systemic glutamine deficiency
Glutamine synthetase deficiency 		... ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, and cerebrospinal fluid Inherited metabolic disorder GLUL [HSA:2752] [KO:K01915]
H00937 Precocious puberty ... gene were described in patients with impaired pubertal development. On the other hand, it has been reported that heterozygous mutations of the LHCGR gene cause gonadotropin-independent precocious puberty ... Endocrine and metabolic disease (CEPREPU) KISS1R [HSA:84634] [KO:K08374]
(FMPP) LHCGR [HSA:3973] [KO:K04248]
H00938 Factor XI deficiency
Plasma thromboplastin antecedent deficiency
Rosenthal syndrome 		... infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have been reported in patients with FXI deficiency. Hematologic disease F11 [HSA:2160] [KO:K01323]
H00941 Factor XII deficiency
Hageman factor deficiency 		... a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency. Hematologic disease F12 [HSA:2161] [KO:K01328]
H00949 Focal dermal hypoplasia
Goltz-Gorlin syndrome 		... polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are frequently reported. Mutations in the PORCN gene have been shown to cause the disease. Congenital malformation PORCN [HSA:64840] [KO:K00181]
H00956 Lattice corneal dystrophies ... dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with the mutations in the TGFBI gene has been reported. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00957 Fleck corneal dystrophy
Francois-Neetens speckled corneal dystrophy 		... corneal stroma. FCD does not affect vision and does not require treatment, but mild photophobia has been reported. Histopathology of the affected areas showed that the flecks correspond to areas of swollen keratocytes ... Nervous system disease PIP5K3 [HSA:200576] [KO:K00921]
H00961 Posterior polymorphous corneal dystrophy ... collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma or corneal edema. Several genes have been reported as causing PPCD. Nervous system disease (PPCD1) OVOL2 [HSA:58495] [KO:K09216]
(PPCD2) COL8A2 [HSA:1296] [KO:K23455]
(PPCD3) ZEB1 [HSA:6935] [KO:K09299]
(PPCD4) GRHL2 [HSA:79977] [KO:K09275]
H00972 Endocrine-cerebro-osteodysplasia syndrome ... Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the disease. Congenital malformation ICK [HSA:22858] [KO:K08828]
H00973 Bradyopsia ... Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding RGS9 and R9AP that have a critical role in the recovery phase of visual ... Nervous system disease (PERRS1) RGS9 [HSA:8787] [KO:K13765]
(PERRS2) RGS9BP [HSA:388531] [KO:K25405]
H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
Taybi-Linder syndrome 		... and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis Congenital malformation RNU4ATAC [HSA:100151683] [KO:K26388]
H01004 Velocardiofacial syndrome ... congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high ... Chromosomal abnormality TBX1 [HSA:6899] [KO:K10175]
DGCR2 [HSA:9993]
DGCR6 [HSA:8214]
DGCR8 [HSA:54487] [KO:K18419]
ESS2 [HSA:8220] [KO:K13118]
H01010 Occult macular dystrophy ... is inherited as an autosomal dominant trait. However, patients with sporadic disease have been also reported. Mutations in RP1L1 gene, which plays essential roles in the cone functions, are responsible ... Nervous system disease RP1L1 [HSA:94137] [KO:K19538]
H01011 Adrenocorticotropic hormone deficiency
Isolated ACDH deficiency 		... transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not ... Endocrine and metabolic disease TBX19 [HSA:9095] [KO:K10184]
H01014 Sparganosis ... frogs, drinking untreated water, or using raw flesh in traditional poultices. Sparganosis has been reported sporadically around the world, and a higher prevalence of the disease occurs in several Asian ... Parasitic infectious disease
H01036 Posterior column ataxia with retinitis pigmentosa ... onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein. Nervous system disease FLVCR1 [HSA:28982] [KO:K08220]
H01038 Cerebellar ataxia cayman type
Cayman ataxia 		... hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing Nervous system disease ATCAY [HSA:85300] [KO:K18450]
H01039 Ovarian hyperstimulation syndrome ... been described, and different mutations in the follicle-stimulating hormone receptor (FSHr) have been reported in these cases. Polycystic ovarian syndrome (PCOS) appears to be the major predisposing factor ... Reproductive system disease FSHR [HSA:2492] [KO:K04247]
H01042 Buruli ulcer Buruli ulcer (BU) is a neglected emerging disease that has recently been reported in some countries especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ... Bacterial infectious disease
H01050 Tsukamurella infection Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, ... Bacterial infectious disease
H01063 Human metapneumovirus infection Human metapneumovirus (hMPV) is an emerging human respiratory pathogen first reported in 2001. hMPV is widely distributed that nearly all individuals have been exposed to the virus by age of 5 years. It ... Viral infectious disease
H01071 Acute alcohol sensitivity ... important enzymes that eliminate toxic aldehydes by catalysing their oxidation to non-reactive acids. It is reported that a deficiency in the ALDH2 is associated with the alcohol flush reaction. More than 40% of ... Inherited metabolic disorder ALDH2 [HSA:217] [KO:K00128]
H01084 Bordetella holmesii infection ... asaccharolytic oxidase-negative gram-negative bacterium closely related to B. pertussis. It has been reported as a rare cause of bacteremia, pertussis-like respiratory tract infection, and endocarditis predominantly ... Bacterial infectious disease
H01085 Diphyllobothriasis ... countries such as Russia and Japan. The worm is acquired by eating raw or poorly cooked fish including salted or marinated fillets. Many infections with this parasite are reported to be mild or asymptomatic. Parasitic infectious disease
H01088 Pigmented paravenous chorioretinal atrophy ... distribution of the retinal veins. PPCRA is bilaterally symmetric, although unilateral cases have been reported. Most cases are sporadic and may represent an acquired response pattern to an infectious or inflammatory ... Nervous system disease CRB1 [HSA:23418] [KO:K16681]
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