12 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| 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:37 | skin disease | An integumentary system disease that is located_in skin. |
| DOID:16 | integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:0060655 | autosomal recessive congenital ichthyosis | An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. |
| DOID:1697 | ichthyosis | A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. |
| DOID:0060715 | autosomal recessive congenital ichthyosis 6 | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060655 | DOID:0060715 |
| is_a | DOID:1697 | DOID:0060715 |
| is_a | DOID:0080015 | DOID:0060715 |
| is_a | DOID:0050177 | DOID:0060715 |
| is_a | DOID:0050737 | DOID:0060715 |
| is_a | DOID:630 | DOID:0060715 |
| is_a | DOID:0050739 | DOID:0060715 |
| is_a | DOID:7 | DOID:0060715 |
| is_a | DOID:37 | DOID:0060715 |
| is_a | DOID:4 | DOID:0060715 |
| is_a | DOID:16 | DOID:0060715 |
