All terms in DOID

Label Id Description
intellectual developmental disorder with autistic features and language delay, with or without seizures DOID_0081430 [An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23.]
Abnormal scalp morphology HP_0001965
simple partial epilepsy DOID_5129
Abnormal glomerular mesangium morphology HP_0001966
Diffuse mesangial sclerosis HP_0001967
mitochondrial complex III deficiency nuclear type 6 DOID_0080115 [A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.]
mitochondrial complex III deficiency DOID_0111139 [A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.]
dimethylglycine dehydrogenase deficiency DOID_0081446 [An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14.]
obsolete schizo-affective type schizophrenia in remission DOID_10274
cone-rod dystrophy 21 DOID_0081447 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13.]
cone-rod dystrophy DOID_0050572 [A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.]
mitochondrial complex III deficiency nuclear type 7 DOID_0080116 [A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21.]
mitochondrial complex III deficiency nuclear type 8 DOID_0080117 [A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.]
cone-rod dystrophy 22 DOID_0081448 [A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11.]
left bundle branch hemiblock DOID_10272
mitochondrial complex III deficiency nuclear type 9 DOID_0080118 [A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12.]
cone-rod dystrophy 24 DOID_0081449 [A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.]
blepharophimosis-impaired intellectual development syndrome DOID_0081442 [A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.]
mitochondrial complex III deficiency nuclear type 1 DOID_0080111 [A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.]
Stolerman neurodevelopmental syndrome DOID_0081443 [A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13.]