All terms in DOID

Label Id Description
non-syndromic X-linked intellectual disability 89 DOID_0112031 [A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3.]
RELA fusion-positive ependymoma DOID_0080892 [A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.]
potassium dichromate CHEBI_53444
non-syndromic X-linked intellectual disability 84 DOID_0112030 [A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3.]
Bainbridge-Ropers syndrome DOID_0080893 [A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.]
lipofibromatosis-like neural tumor DOID_0080894 [A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion.]
rapidly involuting congenital hemangioma DOID_0080895 [A hemangioma that is characterized by complete regression.]
susceptibility to severe influenza MIM_614680
non-syndromic X-linked intellectual disability 77 DOID_0112039 [A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3.]
non-syndromic X-linked intellectual disability 1 DOID_0112038 [A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.]
chromosome Xp11.22 duplication syndrome DOID_0112037 [A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.]
non-syndromic X-linked intellectual disability 105 DOID_0112036 [A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23.]
lymphoma-like variant infiltrating bladder urothelial carcinoma DOID_7972
breast juvenile papillomatosis DOID_6641 [A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years.]
microcystic variant infiltrating bladder urothelial carcinoma DOID_7971
glycogen-rich clear cell breast carcinoma DOID_5310 [A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen.]
vulvar alveolar soft part sarcoma DOID_5313 [An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva.]
obsolete miscellaneous mesenchymal neoplasm DOID_5312
Baastrup's syndrome DOID_6643
obsolete alveolar soft part sarcoma recurrent DOID_5314 [An alveolar soft part sarcoma that recurs over time.]