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Entry Name Description Category Pathway Gene
H00471 Split-hand/foot malformation Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in ... Congenital malformation (SHFM1/1D) DLX5 [HSA:1749] [KO:K18489]
(SHFM4) TP63 [HSA:8626] [KO:K10149]
(SHFM6) WNT10B [HSA:7480] [KO:K01357]
(SFMMP) MAP3K20 [HSA:51776] [KO:K04424]
H00506 Osteogenesis imperfecta Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... Congenital malformation (OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
(OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
(OI5) IFITM5 [HSA:387733] [KO:K06566]
(OI6) SERPINF1 [HSA:5176] [KO:K19614]
(OI7) CRTAP [HSA:10491] [KO:K19606]
(OI8) P3H1 [HSA:64175] [KO:K08134]
(OI9) PPIB [HSA:5479] [KO:K03768]
(OI10) SERPINH1 [HSA:871] [KO:K09501]
(OI11) FKBP10 [HSA:60681] [KO:K09575]
(OI12) SP7 [HSA:121340] [KO:K09197]
(OI13) BMP1 [HSA:649] [KO:K05502]
(OI14) TMEM38B [HSA:55151] [KO:K24013]
(OI15) WNT1 [HSA:7471] [KO:K03209]
(OI16) CREB3L1 [HSA:90993] [KO:K09048]
(OI17) SPARC [HSA:6678] [KO:K24262]
(OI18) TENT5A [HSA:55603] [KO:K23033]
(OI19) MBTPS2 [HSA:51360] [KO:K07765]
(OI20) MESD [HSA:23184] [KO:K25366]
(OI21) KDELR2 [HSA:11014] [KO:K10949]
(OI22) CCDC134 [HSA:79879] [KO:K25417]
(OI23) PHLDB1 [HSA:23187] [KO:K23794]
H00625 Tooth agenesis
Hypodontia 		Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... Congenital malformation (STHAG1) MSX1 [HSA:4487] [KO:K09341]
(STHAG3) PAX9 [HSA:5083] [KO:K09382]
(STHAG4) WNT10A [HSA:80326] [KO:K01357]
(STHAG7) LRP6 [HSA:4040] [KO:K03068]
(STHAG8) WNT10B [HSA:7480] [KO:K01357]
(STHAG9) GREM2 [HSA:64388] [KO:K23318]
(STHAG10) TSPEAR [HSA:54084] [KO:K24437]
(STHAGX1) EDA [HSA:1896] [KO:K05480]
(DASS) LTBP3 [HSA:4054] [KO:K08023]
H00646 Odontoonychodermal dysplasia Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles. Congenital malformation WNT10A [HSA:80326] [KO:K01357]
H00781 Schopf-Schulz-Passarge syndrome
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis 		Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma ... Congenital malformation WNT10A [HSA:80326] [KO:K01357]
H01593 Osteoporosis Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values ... Musculoskeletal disease (BMND1) LRP5 [HSA:4041] [KO:K03068]
(BMND12) UGT2B17 [HSA:7367] [KO:K00699]
(BMND15) MIR2861 [HSA:100422910]
(BMND16) WNT1 [HSA:7471] [KO:K03209]
(BMND17) LGR4 [HSA:55366] [KO:K04309]
(BMND18) PLS3 [HSA:5358] [KO:K17336]
(OPDD) COPB2 [HSA:9276] [KO:K17302]
PDLIM4 [HSA:8572] [KO:K23353]
CALCR [HSA:799] [KO:K04576]
COL1A1 [HSA:1277] [KO:K06236]
COL1A2 [HSA:1278] [KO:K06236]
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