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:0060802 | syndromic X-linked intellectual disability Snyder type | A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. |
11 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:0080012 | DOID:0060802 |
is_a | DOID:0060309 | DOID:0060802 |
is_a | DOID:630 | DOID:0060802 |
is_a | DOID:0050177 | DOID:0060802 |
is_a | DOID:1059 | DOID:0060802 |
is_a | DOID:0050888 | DOID:0060802 |
is_a | DOID:0060038 | DOID:0060802 |
is_a | DOID:0060037 | DOID:0060802 |
is_a | DOID:0050735 | DOID:0060802 |
is_a | DOID:4 | DOID:0060802 |
is_a | DOID:150 | DOID:0060802 |