WormBase Tree Display for DO_term: DOID:2120
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| DOID:2120 | Name | focal dermal hypoplasia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | FDH | |||
| FODH | |||||
| Goltz syndrome | |||||
| Goltz-Gorlin syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0080009 | |||||
| DB_info | Database | OMIM | disease | 305600 | |
| Attribute_of | Gene_by_orthology | WBGene00003394 |
