All terms in DOID

Label Id Description
frame_restoring_variant SO_0001591
minus_1_frameshift_variant SO_0001592
minus_2_frameshift_variant SO_0001593
plus_1_frameshift_variant SO_0001594
plus_2_frameshift_variant SO_0001595
transcript_secondary_structure_variant SO_0001596
compensatory_transcript_secondary_structure_variant SO_0001597
susceptibility to leprosy 4 MIM_610988
Birt-Hogg-Dube syndrome DOID_0050676 [A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.]
Birk-Barel syndrome DOID_0050675 [A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.]
Blau syndrome DOID_0050678 [A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.]
Bjornstad syndrome DOID_0050677 [A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.]
blue cone monochromacy DOID_0050679 [An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster.]
rectum lymphoma DOID_1988
obsolete fetal disease DOID_1987
inflammatory bowel disease 19 DOID_0110890 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1.]
inflammatory bowel disease 3 DOID_0110891 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3.]
vitelliform macular dystrophy DOID_0050661 [A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.]
Beare-Stevenson cutis gyrata syndrome DOID_0050660 [A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.]
rectum malignant melanoma DOID_1992