10 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:0014667 | disease of metabolism | A disease that involves errors in metabolic processes of building or degradation of molecules. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
| DOID:906 | peroxisomal disease | An inherited metabolic disorder that involves peroxisome malfunction. |
| DOID:0080377 | peroxisomal biogenesis disorder | A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. |
| DOID:0080623 | Heimler syndrome 1 | 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. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0080623 |
| is_a | DOID:0080377 | DOID:0080623 |
| is_a | DOID:0050739 | DOID:0080623 |
| is_a | DOID:906 | DOID:0080623 |
| is_a | DOID:0050177 | DOID:0080623 |
| is_a | DOID:655 | DOID:0080623 |
| is_a | DOID:4 | DOID:0080623 |
| is_a | DOID:0014667 | DOID:0080623 |
| is_a | DOID:630 | DOID:0080623 |
