All terms in DOID

Label Id Description
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.]
obsolete schizo-affective type schizophrenia in remission DOID_10274
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.]
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.]
Leukocytosis HP_0001974
Abnormal leukocyte count HP_0011893
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.]
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.]
left bundle branch hemiblock DOID_10272
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.]
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.]
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.]
mitochondrial complex III deficiency nuclear type 3 DOID_0080112 [A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.]
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.]
mitochondrial complex III deficiency nuclear type 4 DOID_0080113 [A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.]
neurodevelopmental disorder with poor growth and behavioral abnormalities DOID_0081444 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13.]
blood protein disease DOID_620