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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| 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] |
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| H01351 | Spastic ataxia | Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... | Neurodegenerative disease |
(SPAX1) VAMP1 [HSA:6843] [KO:K08510] (SPAX2) KIF1C [HSA:10749] [KO:K10392] (SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874] (SPAX4) MTPAP [HSA:55149] [KO:K18060] (SPAX5) AFG3L2 [HSA:10939] [KO:K08956] (SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592] (SPAX8) NKX6-2 [HSA:84504] [KO:K09350] (SPAX9) CHP1 [HSA:11261] [KO:K17610] (SPAX10) COQ4 [HSA:51117] [KO:K18586] |
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