All terms in DOID

Label Id Description
aniridia DOID_12271 [An iris disease that is characterized by a complete or partial absence of the colored part of the eye.]
long QT syndrome 16 DOID_0070533 [A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common.]
long QT syndrome DOID_2843 [An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).]
foveal hypoplasia 1 DOID_0070530 [A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.]
foveal hypoplasia 2 DOID_0070531 [A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen.]
Adenoviridae NCBITaxon_10508
syndromic X-linked intellectual developmental disorder bain type DOID_0070538 [A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.]
Halperin-Birk syndrome DOID_0070539 [A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.]
Mastadenovirus NCBITaxon_10509
Retrognathia HP_0000278
Abnormal mandible morphology HP_0000277
Small face HP_0000274
Narrow face HP_0000275
Abnormal jaw morphology HP_0030791
Roseolovirus NCBITaxon_40272
Abnormality of the head HP_0000234
Malar flattening HP_0000272
Abnormal zygomatic bone morphology HP_0010668
alpha-amino acid CHEBI_33704
mitochondrial complex IV deficiency nuclear type 18 DOID_0070503 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.]