11 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 involving 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:0081433 | Peroxisome biogenesis disorder 4B | A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080377 | DOID:0081433 |
| is_a | DOID:0050737 | DOID:0081433 |
| is_a | DOID:0050736 | DOID:0081433 |
| is_a | DOID:0050177 | DOID:0081433 |
| is_a | DOID:630 | DOID:0081433 |
| is_a | DOID:906 | DOID:0081433 |
| is_a | DOID:4 | DOID:0081433 |
| is_a | DOID:0014667 | DOID:0081433 |
| is_a | DOID:0050739 | DOID:0081433 |
| is_a | DOID:655 | DOID:0081433 |
