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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00777 |
SEMD, short limb-hand type SEMD, short limb-abnormal calcification type |
Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition ... | Congenital malformation | DDR2 [HSA:4921] [KO:K05125] | |
| H01143 | Vitamin D-dependent rickets | Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent ... | Inherited metabolic disorder |
(VDDR1A) CYP27B1 [HSA:1594] [KO:K07438] (VDDR1B) CYP2R1 [HSA:120227] [KO:K07419] (VDDR2A) VDR [HSA:7421] [KO:K08539] (VDDR3) CYP3A4 [HSA:1576] [KO:K17689] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |