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: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:0060037 | developmental disorder of mental health | A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. |
| DOID:150 | disease of mental health | A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. |
| DOID:1059 | intellectual disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| DOID:0060038 | specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| DOID:0060307 | autosomal dominant intellectual developmental disorder | A intellectual disability characterized by an autosomal dominant inheritance pattern. |
| DOID:0060933 | developmental delay, dysmorphic facies, and brain anomalies | An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060307 | DOID:0060933 |
| is_a | DOID:0050177 | DOID:0060933 |
| is_a | DOID:630 | DOID:0060933 |
| is_a | DOID:0050739 | DOID:0060933 |
| is_a | DOID:1059 | DOID:0060933 |
| is_a | DOID:0060038 | DOID:0060933 |
| is_a | DOID:0060037 | DOID:0060933 |
| is_a | DOID:150 | DOID:0060933 |
| is_a | DOID:0050736 | DOID:0060933 |
| is_a | DOID:4 | DOID:0060933 |
