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: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: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: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:0060309 | syndromic X-linked intellectual disability | A syndromic intellectual disability characterized by an X-linked inheritance pattern. |
| 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:0050888 | syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
| DOID:0060038 | specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| DOID:0111843 | Paganini-Miozzo syndrome | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0111843 |
| is_a | DOID:0060309 | DOID:0111843 |
| is_a | DOID:0050735 | DOID:0111843 |
| is_a | DOID:0060037 | DOID:0111843 |
| is_a | DOID:150 | DOID:0111843 |
| is_a | DOID:0060038 | DOID:0111843 |
| is_a | DOID:0050888 | DOID:0111843 |
| is_a | DOID:4 | DOID:0111843 |
| is_a | DOID:0050177 | DOID:0111843 |
| is_a | DOID:630 | DOID:0111843 |
| is_a | DOID:1059 | DOID:0111843 |
