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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00756 | Pitt-Hopkins syndrome | ... 'cupid's-bow' shaped upper lip. A particular breathing pattern is characteristic of PTHS. The defective gene is TCF4 in PTHS, and in patients who show severe mental retardation and other features resembling PTHS have ... | Congenital malformation |
(PTHS) TCF4 [HSA:6925] [KO:K15603] (PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380] (PTHSL2) NRXN1 [HSA:9378] [KO:K07377] |
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| H00960 |
Fuchs corneal dystrophy Fuchs endothelial corneal dystrophy |
Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae ... | Nervous system disease |
(FECD1) COL8A2 [HSA:1296] [KO:K23455] (FECD3) TCF4 [HSA:6925] [KO:K15603] (FECD4) SLC4A11 [HSA:83959] [KO:K13862] (FECD6) ZEB1 [HSA:6935] [KO:K09299] (FECD8) AGBL1 [HSA:123624] [KO:K23436] |
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