WormBase Tree Display for DO_term: DOID:0070307
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| DOID:0070307 | Name | craniolenticulosutural dysplasia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. | ||||
| Synonym | Exact | Boyadjiev-Jabs Syndrome | |||
| cranio-lenticulo-sutural dysplasia, CLSD | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 607812 | |
| Attribute_of | Gene_by_orthology | WBGene00004754 |
