|
obsolete vitamin E deficiency
|
DOID_4026 |
|
|
obsolete steatitis
|
DOID_4025 |
|
|
Achenbach syndrome
|
DOID_6687 |
|
|
obsolete pure BAC
|
DOID_5359 |
|
|
angioma serpiginosum
|
DOID_4028 |
[A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.] |
|
skin hemangioma
|
DOID_471 |
|
|
autoimmune lymphoproliferative syndrome
|
DOID_6688 |
[A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.] |
|
obsolete non-mucinous bronchioloalveolar lung carcinoma
|
DOID_5358 |
|
|
obsolete fetal distress
|
DOID_4027 |
|
|
non-syndromic X-linked intellectual disability 58
|
DOID_0112024 |
[A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4.] |
|
non-syndromic X-linked intellectual disability 20
|
DOID_0112023 |
[A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21.] |
|
non-syndromic X-linked intellectual disability 21
|
DOID_0112022 |
[A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.] |
|
non-syndromic X-linked intellectual disability ARX-related
|
DOID_0112021 |
[A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.] |
|
non-syndromic X-linked intellectual disability 103
|
DOID_0112020 |
[A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11.] |
|
non-syndromic X-linked intellectual disability 50
|
DOID_0112029 |
[A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.] |
|
susceptibility to coronary heart disease 9
|
MIM_612030 |
|
|
non-syndromic X-linked intellectual disability 45
|
DOID_0112028 |
[A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.] |
|
non-syndromic X-linked intellectual disability 14
|
DOID_0112027 |
[A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3.] |
|
non-syndromic X-linked intellectual disability 99
|
DOID_0112026 |
[A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4.] |
|
female-restricted syndromic X-linked intellectual disability 99
|
DOID_0112025 |
[A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4.] |
