All terms in DOID

Label Id Description
obsolete intra-abdominal lymphangioma DOID_2956
nonphotosensitive trichothiodystrophy 7 DOID_0111870 [A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.]
pulmonary tuberculosis DOID_2957 [A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.]
obsolete environmental illness DOID_2958
obsolete breast fibroepithelial tumor DOID_1620
obsolete primary Helicobacteraceae infectious disease DOID_0050311
obsolete primary Listeriaceae infectious disease DOID_0050310
linear skin defects with multiple congenital anomalies 2 DOID_0111877 [A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.]
MLS syndrome DOID_0111875 [A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.]
autosomal dominant nonsyndromic deafness 15 DOID_0110546 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32.]
Diamond-Blackfan anemia 7 DOID_0111878 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11.]
Diamond-Blackfan anemia DOID_1339 [A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.]
autosomal dominant nonsyndromic deafness 16 DOID_0110547 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3.]
autosomal dominant nonsyndromic deafness 12 DOID_0110544 [An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.]
autosomal dominant nonsyndromic deafness 13 DOID_0110545 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.]
linear skin defects with multiple congenital anomalies 3 DOID_0111876 [A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3.]
susceptibility to idiopathic generalized epilepsy 15 MIM_618357
autosomal dominant nonsyndromic deafness 10 DOID_0110542 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.]
photosensitive trichothiodystrophy 1 DOID_0111873 [A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.]
photosensitive trichothiodystrophy DOID_2960 [A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.]