All terms in DOID

Label Id Description
Abnormal midface morphology HP_0000309
agammaglobulinemia 8B DOID_0081143 [An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.]
common variable immunodeficiency 1 DOID_0081144 [A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.]
agammaglobulinemia 8A DOID_0081140 [An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13.]
benign familial infantile seizures 3 DOID_0081116 [A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.]
benign familial infantile epilepsy DOID_0060169 [An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae.]
benign familial infantile seizures 4 DOID_0081117 [A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1.]
benign familial infantile seizures 5 DOID_0081118 [A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13.]
benign familial infantile seizures 6 DOID_0081119 [A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21.]
Baraitser-Winter syndrome 1 DOID_0081112 [A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.]
Baraitser-Winter syndrome DOID_0060229 [A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.]
Genu varum HP_0002970
Abnormal knee morphology HP_0034669
Bowing of the legs HP_0002979
Baraitser-Winter syndrome 2 DOID_0081113 [A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.]
benign familial infantile seizures 1 DOID_0081114 [A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q.]
Polypodiidae <ferns> NCBITaxon_1521262
Polypodiopsida NCBITaxon_241806
benign familial infantile seizures 2 DOID_0081115 [A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11.]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B DOID_0070462 [A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.]