WormBase Tree Display for DO_term: DOID:0080623
expand all nodes | collapse all nodes | view schema
| 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 | Broad | Deafness-enamel hypoplasia-nail defects syndrome | |||
| Exact | peroxisomal biogenesis disorder 1C | ||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080377 | |||||
| DB_info | Database | OMIM | disease | 234580 | |
| Attribute_of | Gene_by_orthology | WBGene00004191 |
