WormBase Tree Display for DO_term: DOID:0111802
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| DOID:0111802 | Name | syndromic microphthalmia 14 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. | ||||
| Synonym | Exact | MCOPS14 | |||
| MCSKS | |||||
| colobomatous microphthalmia-rhizomelic dysplasia syndrome | |||||
| microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia | |||||
| microphthalmia/coloboma and skeletal dysplasia syndrome | |||||
| Parent | Is_a | DOID:0050739 | |||
| DOID:0080636 | |||||
| DB_info | Database | OMIM | disease | 615877 | |
| Attribute_of | Gene_by_orthology | WBGene00003112 |
