All terms in DOID

Label Id Description
vestibule of mouth cancer DOID_9188
forelimb bone UBERON_0008962
forelimb endochondral element UBERON_0015021
central precocious puberty 1 DOID_0112310 [A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13.]
Schindler disease type 1 DOID_0112318 [A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.]
methemoglobinemia and ambiguous genitalia DOID_0112316 [A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3.]
brain small vessel disease 3 DOID_0112315 [A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.]
brain small vessel disease 2 DOID_0112314 [A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.]
obsolete cataplexy and narcolepsy DOID_9199
obsolete Sezary's disease involving intrathoracic lymph nodes DOID_9198
Kanzaki disease DOID_0112319 [A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.]
cone-rod dystrophy 6 DOID_0111011 [A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.]
hereditary spastic paraplegia 82 DOID_0112343 [A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.]
hereditary spastic paraplegia 86 DOID_0112342 [A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.]
cone-rod dystrophy 7 DOID_0111012 [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.]
hereditary spastic paraplegia 80 DOID_0112341 [A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.]
cone-rod dystrophy 5 DOID_0111010 [A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.]
craniotubular dysplasia Ikegawa type DOID_0112340 [A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1.]
cephem CHEBI_38311
cone-rod dystrophy 12 DOID_0111019 [A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.]