Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
412 | STS | steroid sulfatase | |
1718 | DHCR24 | 24-dehydrocholesterol reductase | |
8443 | GNPAT | glyceronephosphate O-acyltransferase | |
8540 | AGPS | alkylglycerone phosphate synthase | |
10682 | EBP | EBP cholestenol delta-isomerase | |
50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
285362 | SUMF1 | sulfatase modifying factor 1 | |
347527 | ARSH | arylsulfatase family member H |
HPO ID | HPO Term |
---|---|
HP:0005792 | Short humerus |
HP:0001508 | Failure to thrive |
HP:0008905 | Rhizomelia |
HP:0000007 | Autosomal recessive inheritance |
HP:0008873 | Disproportionate short-limb short stature |
HP:0010655 | Epiphyseal stippling |
HP:0003097 | Short femur |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024