All terms in DOID

Label Id Description
BCARD syndrome DOID_0061197 [A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22.]
Bethlem myopathy 1A DOID_0061198 [A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22.]
Bethlem myopathy 1B DOID_0061199 [A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22.]
[Haemophilus] ducreyi NCBITaxon_730
ReNU syndrome DOID_0061190 [An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24.]
neonatal nephrocutaneous inflammatory syndrome DOID_0061191 [An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.]
neonatal inflammatory skin and bowel disease 1 DOID_0061192 [An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25.]
nephrotic syndrome type 26 DOID_0061193 [A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13.]
obsolete Conjunctival vascular disorder and cysts DOID_1249
ocular hyperemia DOID_1248
labia minora cancer DOID_1243 [A vulva cancer that is located_in the labium minora.]
luxation of globe DOID_1241
susceptibility to benign essential blepharospasm MIM_606798
malignant histiocytic disease DOID_2570
Langerhans-cell histiocytosis DOID_2571 [A histiocytosis that is characterized by clonal proliferation of Langerhans cells.]
susceptibility to basal cell carcinoma 1 MIM_605462
obsolete drug-induced delirium DOID_2573
obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations DOID_2574
barbiturate dependence DOID_2575 [A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.]
autosomal dominant nonsyndromic deafness 9 DOID_0110593 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12.]