Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete spindle cell cancer	DOID_3163	[A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells.]
obsolete Hair nevus	DOID_3164
integumentary system benign neoplasm	DOID_0060121	[An organ system benign neoplasm located_in the integumentary system organs.]
obsolete metastatic malignant neoplasm to the cervix	DOID_4496
obsolete leukemoid reaction	DOID_3166
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	[An organyl group consisting of a benzene ring with two nitro substituents at positions 2 and 4 relative to the point of attachment.]
organyl group	CHEBI_33249	[Any organic substituent group, regardless of functional type, having one free valence at a carbon atom.]
Christianson syndrome	DOID_0060825	[A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in 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.]
heart failure	SYMP_0000292
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 bnormal 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 Xq23.]
susceptibility to cutaneous malignant melanoma 5	OMIM_613099