All terms in DOID

Label Id Description
mitochondrial complex V (ATP synthase) deficiency nuclear type 1 DOID_0050768 [A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.]
midface dysplasia DOID_0050767 [An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.]
hereditary spherocytosis type 4 DOID_0110919 [A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.]
N syndrome DOID_0050769 [A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.]
autosomal recessive osteopetrosis 1 DOID_0110942 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.]
autosomal recessive osteopetrosis 2 DOID_0110943 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.]
autosomal recessive osteopetrosis 8 DOID_0110940 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.]
autosomal recessive osteopetrosis 3 DOID_0110941 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.]
Mammarenavirus brazilense NCBITaxon_3052299
methylmalonic aciduria and homocystinuria type cblF DOID_0050717 [A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.]
obsolete bovine tuberculosis DOID_411
methylmalonic aciduria and homocystinuria type cblD DOID_0050716 [A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.]
obsolete tuberculous ascites DOID_410
Waardenburg syndrome type 1 DOID_0110948 [A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.]
cerebral folate receptor alpha deficiency DOID_0050719 [A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.]
Waardenburg syndrome type 3 DOID_0110949 [A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.]
autosomal recessive osteopetrosis 7 DOID_0110946 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.]
Waardenburg syndrome type 2B DOID_0110947 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3.]
obsolete cardiovascular tuberculosis DOID_414
autosomal recessive osteopetrosis 4 DOID_0110944 [An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.]