All terms in DOID

Label Id Description
pit UBERON_0016566
Phaeoannellomyces NCBITaxon_66225
pigmented ciliary epithelial cell CL_0002303
rib UBERON_0002228
corticotroph CL_0002309
Culex annulirostris NCBITaxon_162997
spinal cord UBERON_0002240
X-linked dilated cardiomyopathy DOID_0110461 [A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting.]
congenital nystagmus 2 DOID_0111792 [A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12.]
autosomal recessive nonsyndromic deafness 101 DOID_0110462 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32.]
congenital nystagmus 3 DOID_0111793 [A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2.]
congenital nystagmus 1 DOID_0111790 [A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26.]
congenital nystagmus 7 DOID_0111791 [A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1.]
dilated cardiomyopathy 2A DOID_0110460 [A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.]
autosomal recessive nonsyndromic deafness 14 DOID_0110469 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31.]
autosomal recessive nonsyndromic deafness 12 DOID_0110467 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.]
X-linked nephrolithiasis type I DOID_0111798 [A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.]
syndromic microphthalmia 1 DOID_0111799 [A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28.]
autosomal recessive nonsyndromic deafness 13 DOID_0110468 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36.]
congenital nystagmus 5 DOID_0111796 [A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4.]