All terms in DOID

Label Id Description
obsolete child nutrition disorder DOID_4499
squamous cell neoplasm DOID_3168 [A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.]
obsolete papillary epithelial neoplasm DOID_3169
2,4-dinitrophenyl group CHEBI_53018
organyl group CHEBI_33249
Christianson syndrome DOID_0060825 [A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.]
syndromic X-linked intellectual disability Shashi type DOID_0060826 [A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.]
X-linked intellectual disability-psychosis-macroorchidism syndrome DOID_0060827 [A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome DOID_0060828 [A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.]
obsolete Brooks-Wisniewski-Brown syndrome DOID_0060829 [A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome.]
syndromic X-linked intellectual disability Nascimento type DOID_0060820 [A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.]
syndromic X-linked intellectual disability 14 DOID_0060821 [A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.]
syndromic X-linked intellectual disability Cabezas type DOID_0060822 [A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24.]
syndromic X-linked intellectual disability 94 DOID_0060823 [A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.]
syndromic X-linked intellectual disability Raymond type DOID_0060824 [A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.]
obsolete respiratory tract papilloma DOID_3171
papillary adenoma DOID_3172
fallopian tube serous papilloma DOID_3173 [A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.]
fallopian tube benign neoplasm DOID_0060111 [A female reproductive organ benign neoplasm that is located_in the fallopian tube.]
Piroplasmida NCBITaxon_5863