13 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:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| 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:1925 | Coffin-Siris syndrome | An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. |
| DOID:0112367 | Coffin-Siris syndrome 8 | A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:1925 | DOID:0112367 |
| is_a | DOID:0060307 | DOID:0112367 |
| is_a | DOID:0050739 | DOID:0112367 |
| is_a | DOID:1059 | DOID:0112367 |
| is_a | DOID:0050736 | DOID:0112367 |
| is_a | DOID:630 | DOID:0112367 |
| is_a | DOID:225 | DOID:0112367 |
| is_a | DOID:4 | DOID:0112367 |
| is_a | DOID:0050177 | DOID:0112367 |
| is_a | DOID:150 | DOID:0112367 |
| is_a | DOID:0060037 | DOID:0112367 |
| is_a | DOID:0060038 | DOID:0112367 |
