7 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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| 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:9252 | amino acid metabolic disorder | An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. |
| DOID:0050721 | serine deficiency | An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. |
| DOID:0080076 | Neu-Laxova syndrome 1 | A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050721 | DOID:0080076 |
| is_a | DOID:655 | DOID:0080076 |
| is_a | DOID:4 | DOID:0080076 |
| is_a | DOID:0014667 | DOID:0080076 |
| is_a | DOID:630 | DOID:0080076 |
| is_a | DOID:9252 | DOID:0080076 |
