|
syndactyly
|
DOID_11193 |
[A synostosis that results_in the fusion of two or more digits.] |
|
tubocurarine
|
CHEBI_9774 |
|
|
obsolete tonsillar aspergillosis
|
DOID_0050074 |
[An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.] |
|
venous dural sinus
|
UBERON_0005486 |
|
|
essential tremor 3
|
DOID_0111430 |
[An essential tremor that has_material_basis_in variation in a region on chromosome 6p23.] |
|
invasive aspergillosis
|
DOID_0050073 |
[An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.] |
|
obsolete pulmonary blastomycosis
|
DOID_0050075 |
[A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules.] |
|
obsolete cervix tuberculosis
|
DOID_0050078 |
|
|
obsolete niacin deficiency
|
DOID_0050079 |
|
|
atrial heart septal defect 1
|
DOID_0110106 |
[An atrial heart septal defect type 1 associated with variation in the region 5p.] |
|
optic atrophy 7
|
DOID_0111437 |
[An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.] |
|
optic atrophy 5
|
DOID_0111438 |
[An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.] |
|
atrial heart septal defect 2
|
DOID_0110107 |
[An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23.] |
|
atopic dermatitis 8
|
DOID_0110104 |
[An atopic dermatitis associated with variation in the region 4q22.1.] |
|
optic atrophy 6
|
DOID_0111435 |
[An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.] |
|
optic atrophy 11
|
DOID_0111436 |
[An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1.] |
|
atopic dermatitis 9
|
DOID_0110105 |
[An atopic dermatitis associated with variation in the region 3p24.] |
|
atopic dermatitis 6
|
DOID_0110102 |
[An atopic dermatitis associated with variation in the region 5q31-q33.] |
|
optic atrophy 3
|
DOID_0111433 |
[An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.] |
|
obsolete plague meningitis
|
DOID_0050070 |
|