All terms in DOID

Label Id Description
hypertrophic cardiomyopathy 8 DOID_0110314 [A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene.]
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome DOID_0111645 [An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.]
infancy electroclinical syndrome DOID_0050703 [An electroclinical syndrome with onset in infancy occurring between birth and one year of age.]
benign paroxysmal positional vertigo DOID_13941 [A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing.]
obsolete adrenal hemorrhage of fetus or newborn DOID_12610
hypertrophic cardiomyopathy 21 DOID_0110311 [A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation.]
autosomal recessive nonsyndromic deafness 114 DOID_0111642 [An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.]
obsolete recurrent larynx cancer DOID_7162
obsolete abnormality of forces of labor DOID_8493
autosomal recessive nonsyndromic deafness 115 DOID_0111643 [An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2.]
hypertrophic cardiomyopathy 6 DOID_0110312 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).]
obsolete primary hypotonic uterine dysfunction DOID_8490
autosomal recessive nonsyndromic deafness 111 DOID_0111640 [An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33.]
rectal leiomyoma DOID_7160 [A rectal benign neoplasm that has_material_basis_in smooth muscle tissue.]
obsolete Prolonged first stage of labor DOID_8491
hypertrophic cardiomyopathy 4 DOID_0110310 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.]
autosomal recessive nonsyndromic deafness 94 DOID_0111641 [An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.]
mucormycosis DOID_8485 [An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds.]
obsolete adult undifferentiated oligodendroglioma DOID_7155
prostate stromal sarcoma DOID_7152 [A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate.]