WormBase Tree Display for DO_term: DOID:0080623
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| DOID:0080623 | Name | Heimler syndrome 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. | ||||
| Synonym (2) | |||||
| Parent | Is_a (2) | ||||
| DB_info | Database | OMIM | disease | 234580 | |
| Attribute_of | Gene_by_orthology | WBGene00004191 |
