Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
subacute thyroiditis	DOID_7165
irregular astigmatism	DOID_13919
obsolete dystocia	DOID_8494
somatization disorder	DOID_13918	[A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.]
obsolete mediastinum mature teratoma	DOID_7164
obsolete prolonged labor	DOID_8495
lung occult large cell carcinoma	DOID_7169
autosomal recessive nonsyndromic deafness 109	DOID_0111639	[An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in ESRP1 on chromosome 8q22.1.]
hypertrophic cardiomyopathy 2	DOID_0110308	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).]
hypertrophic cardiomyopathy 3	DOID_0110309	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.]
hereditary night blindness	DOID_8498
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 BDP1 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
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 PPIP5K2 on chromosome 5q21.1.]
hypertrophic cardiomyopathy 1	DOID_0110307	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.]
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 ARMC5 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.]