All terms in DOID

Label Id Description
cyclic hematopoiesis DOID_5339
neutropenia DOID_1227
fallopian tube transitional cell carcinoma DOID_4008 [A fallopian tube carcinoma that derives_from epithelial transitional cells.]
gingival hypertrophy DOID_5338
obsolete renal pelvis and ureter transitional cell cancer DOID_4009
non-syndromic X-linked intellectual disability 97 DOID_0112046 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1.]
vitamin D-dependent rickets type 2B DOID_0080885 [A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.]
vitamin D-dependent rickets DOID_0080883 [A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.]
epithelial-myoepithelial carcinoma DOID_5309
non-syndromic X-linked intellectual disability 93 DOID_0112045 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1.]
vitamin D-dependent rickets type 1A DOID_0080886 [A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.]
non-syndromic X-linked intellectual disability 98 DOID_0112044 [A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.]
vitamin D-dependent rickets type 1B DOID_0080887 [A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.]
non-syndromic X-linked intellectual disability 91 DOID_0112043 [A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3.]
spinal ependymoma, MYCN-amplified DOID_0080888 [A spinal cord ependymoma that is characterized by MYCN amplification.]
susceptibility to pancreatic cancer 2 MIM_613347
Tonne-Kalscheuer syndrome DOID_0112042 [A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.]
pleomorphic xanthoastrocytoma BRAF mutant DOID_0080881 [An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations.]
anaplastic pleomorphic xanthoastrocytoma DOID_0080854 [A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.]
susceptibility to pancreatic cancer 3 MIM_613348