12 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:2978 | carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| DOID:5212 | congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| DOID:0050570 | congenital disorder of glycosylation type I | A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. |
| DOID:0080574 | congenital disorder of glycosylation Iy | A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0080574 |
| is_a | DOID:0050570 | DOID:0080574 |
| is_a | DOID:630 | DOID:0080574 |
| is_a | DOID:0050177 | DOID:0080574 |
| is_a | DOID:2978 | DOID:0080574 |
| is_a | DOID:0014667 | DOID:0080574 |
| is_a | DOID:4 | DOID:0080574 |
| is_a | DOID:0050735 | DOID:0080574 |
| is_a | DOID:5212 | DOID:0080574 |
| is_a | DOID:0080015 | DOID:0080574 |
| is_a | DOID:655 | DOID:0080574 |
