All terms in DOID

Label Id Description
mitochondrial complex IV deficiency nuclear type 20 DOID_0070505 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.]
mitochondrial complex IV deficiency nuclear type 21 DOID_0070506 [A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3.]
ischemia SYMP_0000209
acute suppurative parotiditis SYMP_0000206
afebrile SYMP_0000207 [A fever that is characterized by the state of being free from fever.]
Coarse facial features HP_0000280
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies DOID_0070514 [An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2.]
obsolete diabetic oculopathy DOID_2180
chromosome 16p11.2 deletion syndrome, 593-kb DOID_0070515 [A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).]
post-surgical hypoinsulinemia DOID_2181
neurodevelopmental disorder with hypotonia and speech delay DOID_0070512 [A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3.]
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities DOID_0070513 [An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.]
inflammatory poikiloderma with hair abnormalities and acral keratoses DOID_0070510 [A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2.]
polyhydramnios, megalencephaly, and symptomatic epilepsy DOID_0070511 [A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3.]
obsolete macrocephaly DOID_2186
dental enamel hypoplasia DOID_693
acute painful vision loss SYMP_0000202
acute arthritis SYMP_0000200
arthritis SYMP_0019169 [Arthritis is a musculoskeletal system symptom characterized as an inflammation of joints due to infectious, metabolic, or constitutional causes.]
acute meningoencephalitis SYMP_0000201 [A meningoencephalitis that is characterized by a severe and sudden onset.]