All terms in DOID

Label Id Description
hereditary night blindness DOID_8498
susceptibility to colorectal cancer 12 MIM_615083
autosomal recessive nonsyndromic deafness 112 DOID_0111637 [An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2.]
autosomal dominant limb-girdle muscular dystrophy type 3 DOID_0110306 [An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.]
lung occult adenocarcinoma DOID_7168
lumbosacral plexus lesion DOID_13913
hypertrophic cardiomyopathy 1 DOID_0110307 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.]
autosomal recessive nonsyndromic deafness 100 DOID_0111638 [An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1.]
obsolete acute psychogenic paranoid psychosis DOID_13923
ACTH-independent macronodular adrenal hyperplasia 2 DOID_0111624 [An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2.]
ACTH-independent macronodular adrenal hyperplasia DOID_0111622 [A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.]
eosinophilic esophagitis DOID_13922 [An esophagitis characterized by inflammation involving eosinophils located_in esophagus.]
ventriculomegaly - cystic kidney disease DOID_0111625 [A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3.]
bacterial esophagitis DOID_13921
ACTH-independent macronodular adrenal hyperplasia 1 DOID_0111623 [An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.]
corneal dystrophy-perceptive deafness syndrome DOID_0111620 [A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13.]
Temtamy syndrome DOID_0111621 [A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.]
benign dermal neurilemmoma DOID_7181
anal canal squamous cell carcinoma DOID_7177 [An anal canal cancer that derives_from epithelial squamous cells.]
anus basaloid carcinoma DOID_7174