Heimler Syndrome 1
Disease ID: disease_node_17529
Connections displayed (default: 10).
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| Dbxref | MIM:234580 |
|---|---|
| Subclassof | DOID_0080377, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Deafness-enamel hypoplasia-nail defects syndrome, peroxisomal biogenesis disorder 1C |
| Doid Label | Heimler syndrome 1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17529 |
| Doid Id | DOID_0080623 |
| Label | Heimler Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Biogenesis Disorder(ID:disease_node_17504) (Disease)