WormBase Tree Display for DO_term: DOID:0081273
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| DOID:0081273 | Name | Siddiqi syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. | ||||
| Parent | Is_a | DOID:9455 | |||
| DB_info | Database | OMIM | disease | 618635 | |
| Attribute_of | Gene_by_orthology | WBGene00044094 |
