10 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:0060388 | chromosomal deletion syndrome | A chromosomal disease that has_material_basis_in partial deletion of chromosomes. |
| DOID:0080014 | chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| DOID:0060352 | Kleefstra syndrome 1 | A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. |
| DOID:0080597 | Kleefstra syndrome | A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060388 | DOID:0060352 |
| is_a | DOID:0080597 | DOID:0060352 |
| is_a | DOID:0050736 | DOID:0060352 |
| is_a | DOID:4 | DOID:0060352 |
| is_a | DOID:630 | DOID:0060352 |
| is_a | DOID:0050177 | DOID:0060352 |
| is_a | DOID:225 | DOID:0060352 |
| is_a | DOID:0050739 | DOID:0060352 |
| is_a | DOID:0080014 | DOID:0060352 |
