All terms in DOID

Label Id Description
obsolete multiple symmetrical lipomatosis DOID_3137
acanthosis nigricans DOID_3138 [A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.]
pigmentation disease DOID_10123 [A skin disease that is characterized by discoloration of the skin.]
idiopathic CD4-positive T-lymphocytopenia DOID_3109 [A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.]
lymphopenia DOID_614 [A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.]
Wilson-Turner syndrome DOID_0060814 [A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.]
Wieacker-Wolff syndrome DOID_0060815 [A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.]
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome DOID_0060816 [A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.]
syndromic X-linked intellectual disability 34 DOID_0060817 [A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.]
syndromic X-linked intellectual disability Abidi type DOID_0060818 [A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2.]
syndromic X-linked intellectual disability Chudley-Schwartz type DOID_0060819 [A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.]
syndromic X-linked intellectual disability type 10 DOID_0060810 [A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.]
syndromic X-linked intellectual disability Turner type DOID_0060811 [A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.]
syndromic X-linked intellectual disability Siderius type DOID_0060812 [A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.]
syndromic X-linked intellectual disability Shrimpton type DOID_0060813 [A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31.]
sebaceous breast carcinoma DOID_5760 [A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma.]
vulvar sebaceous carcinoma DOID_5761 [A vulva carcinoma that is characterized by the presence of sebaceous secretions.]
somatostatinoma DOID_4430
neuroendocrine tumor DOID_169 [An endocrine gland cancer that has_material_basis_in neuroendocrine cells.]
obsolete Ureaplasma urealyticum urethritis DOID_3100