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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02415 |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development |
... syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical role for TMCO1 in early fetal growth and development has been suggested | Congenital malformation |
(CFSMR1) TMCO1 [HSA:54499] [KO:K21891] (CFSMR2) RAB5IF [HSA:55969] [KO:K26496] |
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| H02481 | Syndromic disorder with short stature | ... failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown pathologies. Several underlying genetic causes of these disorders have been identified. | Congenital malformation |
(SAMS) GSC [HSA:145258] [KO:K09324] (SBIDDS) PRMT7 [HSA:54496] [KO:K11438] (SIMHA) ZNF407 [HSA:55628] [KO:K26729] (SOFT) POC1A [HSA:25886] [KO:K16482] (SOFM) POLR3GL [HSA:84265] [KO:K03024] (SOPH) NBAS [HSA:51594] [KO:K20473] (SRMMD) ARCN1 [HSA:372] [KO:K20471] (SSASKS) SLC10A7 [HSA:84068] [KO:K14347] (SSFSC1) BMP2 [HSA:650] [KO:K21283] (SSFSC2) SCUBE3 [HSA:222663] [KO:K24468] |
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