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Entry | Name | Description | Category | Pathway | Gene |
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H00328 | Anthrax | Anthrax is a zoonotic infectious disease caused by Bacillus anthracis, a Gram-positive, spore-forming bacterium belonging to the Bacillus cereus group of pathogenic Bacillus, which also includes a food ... | Bacterial infectious disease | ||
H00481 | Cone-rod dystrophy and cone dystrophy | Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP) ... | Nervous system disease |
(CORD2) CRX [HSA:1406] [KO:K09337] (CORD3) ABCA4 [HSA:24] [KO:K05644] (CORD5) PITPNM3 [HSA:83394] [KO:K24069] (CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321] (CORD7) RIMS1 [HSA:22999] [KO:K15291] (CORD9) ADAM9 [HSA:8754] [KO:K06834] (CORD10) SEMA4A [HSA:64218] [KO:K06521] (CORD11) RAX2 [HSA:84839] [KO:K09333] (CORD12) PROM1 [HSA:8842] [KO:K06532] (CORD13) RPGRIP1 [HSA:57096] [KO:K16512] (CORD14/COD3) GUCA1A [HSA:2978] [KO:K08328] (CORD15) CDHR1 [HSA:92211] [KO:K16501] (CORD16) C8orf37 [HSA:157657] [KO:K25226] (CORD18) RAB28 [HSA:9364] [KO:K07915] (CORD19) TTLL5 [HSA:23093] [KO:K16602] (CORD20) POC1B [HSA:282809] [KO:K16482] (CORD21) DRAM2 [HSA:128338] [KO:K21956] (CORD22) TLCD3B [HSA:83723] [KO:K26600] (CORD24) UNC119 [HSA:9094] [KO:K23539] (CORDX1/COD1) RPGR [HSA:6103] [KO:K19607] (CORDX3) CACNA1F [HSA:778] [KO:K04853] (COD4) PDE6C [HSA:5146] [KO:K13757] (RCD3A) PDE6H [HSA:5149] [KO:K13760] (RCD3B) KCNV2 [HSA:169522] [KO:K04935] (RCD4) CACNA2D4 [HSA:93589] [KO:K04861] |
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H00527 | Retinitis pigmentosa | Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) ... | Nervous system disease |
(RP1) RP1 [HSA:6101] [KO:K19538] (RP2) RP2 [HSA:6102] [KO:K18272] (RP3/RP15) RPGR [HSA:6103] [KO:K19607] (RP4) RHO [HSA:6010] [KO:K04250] (RP7) PRPH2 [HSA:5961] [KO:K17343] (RP7) ROM1 [HSA:6094] [KO:K17344] (RP9) RP9 [HSA:6100] [KO:K19604] (RP10) IMPDH1 [HSA:3614] [KO:K00088] (RP11) PRPF31 [HSA:26121] [KO:K12844] (RP12) CRB1 [HSA:23418] [KO:K16681] (RP13) PRPF8 [HSA:10594] [KO:K12856] (RP14) TULP1 [HSA:7287] [KO:K19600] (RP17) CA4 [HSA:762] [KO:K18246] (RP18) PRPF3 [HSA:9129] [KO:K12843] (RP19) ABCA4 [HSA:24] [KO:K05644] (RP20/87) RPE65 [HSA:6121] [KO:K11158] (RP23) OFD1 [HSA:8481] [KO:K16480] (RP25) EYS [HSA:346007] [KO:K19601] (RP26) CERKL [HSA:375298] [KO:K19602] (RP27) NRL [HSA:4901] [KO:K09038] (RP28) FAM161A [HSA:84140] [KO:K16772] (RP30) FSCN2 [HSA:25794] [KO:K17455] (RP31) TOPORS [HSA:10210] [KO:K10631] (RP32) CLCC1 [HSA:23155] [KO:K22188] (RP33) SNRNP200 [HSA:23020] [KO:K12854] (RP35) SEMA4A [HSA:64218] [KO:K06521] (RP36) PRCD [HSA:768206] [KO:K19637] (RP37) NR2E3 [HSA:10002] [KO:K08546] (RP38) MERTK [HSA:10461] [KO:K05117] (RP39) USH2A [HSA:7399] [KO:K19636] (RP40) PDE6B [HSA:5158] [KO:K13756] (RP41) PROM1 [HSA:8842] [KO:K06532] (RP42) KLHL7 [HSA:55975] [KO:K10445] (RP43) PDE6A [HSA:5145] [KO:K08718] (RP44) RGR [HSA:5995] [KO:K04254] (RP45) CNGB1 [HSA:1258] [KO:K04952] (RP46) IDH3B [HSA:3420] [KO:K00030] (RP47/RP96) SAG [HSA:6295] [KO:K19627] (RP48) GUCA1B [HSA:2979] [KO:K08328] (RP49) CNGA1 [HSA:1259] [KO:K04948] (RP50) BEST1 [HSA:7439] [KO:K13878] (RP54) PCARE [HSA:388939] [KO:K24165] (RP55) ARL6 [HSA:84100] [KO:K07951] (RP56) IMPG2 [HSA:50939] [KO:K19017] (RP57) PDE6G [HSA:5148] [KO:K13759] (RP58) ZNF513 [HSA:130557] [KO:K24373] (RP59) DHDDS [HSA:79947] [KO:K11778] (RP60) PRPF6 [HSA:24148] [KO:K12855] (RP61) CLRN1 [HSA:7401] [KO:K23841] (RP62) MAK [HSA:4117] [KO:K08829] (RP64) CFAP418 [HSA:157657] [KO:K25226] (RP66) RBP3 [HSA:5949] [KO:K23911] (RP67) NEK2 [HSA:4751] [KO:K20872] (RP68) SLC7A14 [HSA:57709] [KO:K13871] (RP69) KIZ [HSA:55857] [KO:K16539] (RP70) PRPF4 [HSA:9128] [KO:K12662] (RP71) IFT172 [HSA:26160] [KO:K19676] (RP72) ZNF408 [HSA:79797] [KO:K24372] (RP73) HGSNAT [HSA:138050] [KO:K10532] (RP74) BBS2 [HSA:583] [KO:K16747] (RP75) AGBL5 [HSA:60509] [KO:K23438] (RP76) POMGNT1 [HSA:55624] [KO:K09666] (RP77) REEP6 [HSA:92840] [KO:K17279] (RP78) ARHGEF18 [HSA:23370] [KO:K21066] (RP79) HK1 [HSA:3098] [KO:K00844] (RP80) IFT140 [HSA:9742] [KO:K19672] (RP81) IFT43 [HSA:112752] [KO:K19675] (RP82) ARL2BP [HSA:23568] [KO:K16742] (RP83) ARL3 [HSA:403] [KO:K07944] (RP84) DHX38 [HSA:9785] [KO:K12815] (RP85) AHR [HSA:196] [KO:K09093] (RP86) RP86 [HSA:57670] (RP88) RP1L1 [HSA:94137] [KO:K19538] (RP89) KIF3B [HSA:9371] [KO:K20196] (RP90) IDH3A [HSA:3419] [KO:K00030] (RP91) IMPG1 [HSA:3617] [KO:K19016] (RP92) HKDC1 [HSA:80201] [KO:K00844] (RP93) CC2D2A [HSA:57545] [KO:K19352] (RP94) SPATA7 [HSA:55812] [KO:K19655] (RP95) RAX2 [HSA:84839] [KO:K09333] (RP97) VWA8 [HSA:23078] [KO:K24512] (Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625] |
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H00675 | Acrocapitofemoral dysplasia | ... autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and ... | Congenital malformation | IHH [HSA:3549] [KO:K11989] | |
H00751 |
Asphyxiating thoracic dystrophy Jeune syndrome |
... the involvement of kidneys, liver, pancreas and eyes. Patients have proximal cervical stenosis and severe respiratory insufficiency due to the skeletal abnormalities such as narrow thorax and short ribs. | Congenital malformation |
(ATD2) IFT80 [HSA:57560] [KO:K19678] (ATD3) DYNC2H1 [HSA:79659] [KO:K10414] (ATD4) TTC21B [HSA:79809] [KO:K19673] (ATD5) WDR19 [HSA:57728] [KO:K19671] |
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H00757 | Dyggve-Melchior-Clausen disease | ... spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without ... | Congenital malformation | DYM [HSA:54808] [KO:K23951] | |
H00802 | Ehlers-Danlos syndrome | ... (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic ... | Congenital malformation |
(EDSCL1) COL5A1 [HSA:1289] [KO:K19721] (EDSCL2) COL5A2 [HSA:1290] [KO:K19721] (EDSCLL) TNXB [HSA:7148] [KO:K06252] (EDSCLL2) AEBP1 [HSA:165] [KO:K21392] |
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H00821 | Age-related macular degeneration | Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... | Nervous system disease |
(ARMD1) HMCN1 [HSA:83872] [KO:K17341] (ARMD1) CFHR1 [HSA:3078] [KO:K23815] (ARMD1) CFHR3 [HSA:10878] [KO:K23815] (ARMD2) ABCA4 [HSA:24] [KO:K05644] (ARMD3) FBLN5 [HSA:10516] [KO:K17340] (ARMD4) CFH [HSA:3075] [KO:K04004] (ARMD5) ERCC6 [HSA:2074] [KO:K10841] (ARMD6) RAX2 [HSA:84839] [KO:K09333] (ARMD7) HTRA1 [HSA:5654] [KO:K08784] (ARMD8) ARMS2 [HSA:387715] [KO:K25179] (ARMD9) C3 [HSA:718] [KO:K03990] (ARMD10) TLR4 [HSA:7099] [KO:K10160] (ARMD11) CST3 [HSA:1471] [KO:K13899] (ARMD12) CX3CR1 [HSA:1524] [KO:K04192] (ARMD13) CFI [HSA:3426] [KO:K01333] (ARMD14) C2 [HSA:717] [KO:K01332] (ARMD14) CFB [HSA:629] [KO:K01335] (ARMD15) C9 [HSA:735] [KO:K04000] |
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H00848 | Ataxia with ocular apraxia | Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT) ... | Nervous system disease |
(AOA1) APTX [HSA:54840] [KO:K10863] (AOA2) SETX [HSA:23064] [KO:K10706] (AOA3) PIK3R5 [HSA:23533] [KO:K21290] (AOA4) PNKP [HSA:11284] [KO:K08073] |
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H01072 | Moraxella catarrhalis infection | Moraxella catarrhalis is a gram-negative human mucosal pathogen that is morphologically similar to Neisseria spp. It is found as a common commensal of the nasopharynx and can cause upper respiratory tract ... | Bacterial infectious disease | ||
H01110 | Pneumothorax | Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such ... | Respiratory system disease | FLCN [HSA:201163] [KO:K09594] | |
H01241 | Congenital diaphragmatic hernia | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially ... | Congenital malformation |
(DIH3) ZFPM2 [HSA:23414] [KO:K17442] (DIH4) ALDH1A2 [HSA:8854] [KO:K07249] |
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H01366 | Bacterial conjunctivitis | ... infection caused by bacterial pathogens, such as Haemophilus influenza, Streptococcus pneumoniae and Moraxella catarrhalis. Most cases of conjunctivitis in adults are likely to be caused by viral infection ... | Bacterial infectious disease | ||
H01750 | Thanatophoric dysplasia | ... cloverleaf skull deformity. Other features common to type I and type II include short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along ... | Congenital malformation | FGFR3 [HSA:2261] [KO:K05094] | |
H01801 |
Kagami-Ogata syndrome Paternal uniparental disomy 14 |
Paternal uniparental disomy 14 syndrome is characterized by characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios ... | Chromosomal abnormality | ||
H01827 | Rolandic epilepsy, mental retardation, and speech dyspraxia | ... epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 has been identified as being responsible for rolandic epilepsy ... | Nervous system disease |
GRIN2A [HSA:2903] [KO:K05209] SRPX2 [HSA:27286] [KO:K19408] |
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H01843 | Cerebrocostomandibular syndrome | ... obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in ... | Congenital malformation | SNRPB [HSA:6628] [KO:K11086] | |
H01851 | Congenital scoliosis associated with rib anomalies | ... and lead to a thoracic insufficiency syndrome. The vertebral expandable prosthetic titanium rib (VEPTR) holds the expanded hemithorax. This improves the thoracic height, lung volume and lung function. | Congenital malformation | ||
H01928 |
Smith-Kingsmore syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
... syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR ... | Congenital malformation | MTOR [HSA:2475] [KO:K07203] | |
H02170 | Microphthalmia, syndromic | Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... | Congenital malformation |
(MCOPS1) NAA10 [HSA:8260] [KO:K20791] (MCOPS2) BCOR [HSA:54880] [KO:K23215] (MCOPS3) SOX2 [HSA:6657] [KO:K16796] (MCOPS5) OTX2 [HSA:5015] [KO:K18490] (MCOPS6) BMP4 [HSA:652] [KO:K04662] (MCOPS7) HCCS [HSA:3052] [KO:K01764] (MCOPS9) STRA6 [HSA:64220] [KO:K23088] (MCOPS11) VAX1 [HSA:11023] [KO:K09318] (MCOPS12) RARB [HSA:5915] [KO:K08528] (MCOPS13) HMGB3 [HSA:3149] [KO:K11296] (MCOPS14) MAB21L2 [HSA:10586] (MCOPS15) TENM3 [HSA:55714] [KO:K24473] (MCOPS16) RAX [HSA:30062] [KO:K09332] |
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H02244 |
Ehlers-Danlos syndrome dermatosparaxis type Ehlers-Danlos syndrome type VIIC |
Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2 ... | Congenital malformation | (EDSDERMS) ADAMTS2 [HSA:9509] [KO:K08618] | |
H02268 | Wieacker-Wolff syndrome | ... X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation. WRWF is caused by mutations in the ... | Musculoskeletal disease | ZC4H2 [HSA:55906] [KO:K24369] | |
H02464 | Poretti-Boltshauser syndrome | ... recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease. | Congenital malformation | LAMA1 [HSA:284217] [KO:K05637] | |
H02507 | Pilarowski-Bjornsson syndrome | Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense mutations ... | Mental and behavioural disorder | CHD1 [HSA:1105] [KO:K11367] | |
H02616 | Neurodevelopmental disorder with macrocephaly | ... to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac ... | Congenital malformation |
(SNIBCPS) CHD3 [HSA:1107] [KO:K11642] (SIHIWES) CHD4 [HSA:1108] [KO:K11643] (GAND) GATAD2B [HSA:57459] [KO:K23194] |
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H02728 | Marbach-Schaaf neurodevelopmental syndrome | ... (MASNS) is a neurodevelopmental disorder with global developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B cause this syndrome. PRKAR1B encodes a regulatory ... | Congenital malformation | PRKAR1B [HSA:5575] [KO:K04739] |
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