All terms in DOID

Label Id Description
obsolete Uncinaria stenocephala infectious disease DOID_0050255 [A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections.]
Encephalitozoon cuniculi NCBITaxon_6035
aminoglycoside-induced deafness DOID_0111734 [A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31.]
retinitis pigmentosa 13 DOID_0110403 [A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.]
susceptibility to tobacco addiction MIM_188890
X-linked deafness 4 DOID_0111735 [An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12.]
X-linked nonsyndromic deafness DOID_0050566 [A nonsyndromic deafness characterized by an X-linked inheritance mode.]
retinitis pigmentosa 17 DOID_0110404 [A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.]
retinitis pigmentosa 74 DOID_0110401 [A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.]
Eiken syndrome DOID_0111732 [A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.]
pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID_0111733 [A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.]
retinitis pigmentosa 45 DOID_0110402 [A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13.]
familial episodic pain syndrome 2 DOID_0111730 [A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22.]
familial episodic pain syndrome DOID_0111728 [A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion.]
familial episodic pain syndrome 3 DOID_0111731 [A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.]
retinitis pigmentosa 22 DOID_0110400 [A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1.]
Microsporidia NCBITaxon_6029
retinitis pigmentosa 46 DOID_0110409 [A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13.]
retinitis pigmentosa 57 DOID_0110407 [A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3.]
X-linked deafness 7 DOID_0111738 [An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1.]