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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]
H00516 Cleft lip and/or cleft palate Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome ... Congenital malformation (OFC5) MSX1 [HSA:4487] [KO:K09341]
(OFC6) IRF6 [HSA:3664] [KO:K10154]
(OFC7) NECTIN1 [HSA:5818] [KO:K06081]
(OFC8/RHS) TP63 [HSA:8626] [KO:K10149]
(OFC10) SUMO1 [HSA:7341] [KO:K12160]
(OFC11) BMP4 [HSA:652] [KO:K04662]
(OFC15) DLX4 [HSA:1748] [KO:K09314]
H00627 Premature ovarian failure Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... Reproductive system disease (POF1) FMR1 [HSA:2332] [KO:K15516]
(POF2A) DIAPH2 [HSA:1730] [KO:K05741]
(POF2B) POF1B [HSA:79983] [KO:K23917]
(POF3) FOXL2 [HSA:668] [KO:K09405]
(POF4) BMP15 [HSA:9210] [KO:K05498]
(POF5) NOBOX [HSA:135935] [KO:K24199]
(POF6) FIGLA [HSA:344018] [KO:K09066]
(POF7) NR5A1 [HSA:2516] [KO:K08560]
(POF8) STAG3 [HSA:10734] [KO:K13055]
(POF9) HFM1 [HSA:164045] [KO:K15271]
(POF10) MCM8 [HSA:84515] [KO:K10737]
(POF11) ERCC6 [HSA:2074] [KO:K10841]
(POF12) SYCE1 [HSA:93426] [KO:K19534]
(POF13) MSH5 [HSA:4439] [KO:K08741]
(POF14) GDF9 [HSA:2661] [KO:K22673]
(POF15) FANCM [HSA:57697] [KO:K10896]
(POF16) BNC1 [HSA:646] [KO:K24146]
(POF17) XRCC2 [HSA:7516] [KO:K10879]
(POF18) C14orf39 [HSA:317761] [KO:K25705]
(POF19) HSF2BP [HSA:11077] [KO:K25791]
(POF20) MSH4 [HSA:4438] [KO:K08740]
(POF21) TP63 [HSA:8626] [KO:K10149]
(POF22) KASH5 [HSA:147872] [KO:K22595]
(POF23) MEIOB [HSA:254528] [KO:K22420]
H00638 Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
EEC syndrome 		Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the ... Congenital malformation TP63 [HSA:8626] [KO:K10149]
H00640 Limb-mammary syndrome Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients ... Congenital malformation TP63 [HSA:8626] [KO:K10149]
H00641 ADULT syndrome ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of ... Congenital malformation TP63 (gain of function) [HSA:8626] [KO:K10149]
H00752 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme ... Congenital malformation TP63 [HSA:8626] [KO:K10149]
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