All terms in DOID

Label Id Description
familial febrile seizures 9 DOID_0111303 [A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23.]
familial febrile seizures 10 DOID_0111304 [A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33.]
generalized epilepsy with febrile seizures plus 9 DOID_0111301 [A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.]
generalized epilepsy with febrile seizures plus DOID_0060170 [An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.]
generalized epilepsy with febrile seizures plus 1 DOID_0111302 [A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.]
generalized epilepsy with febrile seizures plus 6 DOID_0111300 [A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21.]
organic hydride CHEBI_37175
Schaalia odontolytica NCBITaxon_1660
familial febrile seizures 6 DOID_0111309 [A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2.]
auditory system UBERON_0016490
familial febrile seizures 1 DOID_0111307 [A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21.]
familial febrile seizures 11 DOID_0111308 [A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.]
neural crest derived neuron CL_0000029
combined saposin deficiency DOID_0111330 [A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.]
3-methylglutaconic aciduria type 5 DOID_0110000 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26.]
intellectual disability-severe speech delay-mild dysmorphism syndrome DOID_0111331 [A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.]
Sylvaemus group NCBITaxon_400053
achromatopsia 2 DOID_0110007 [An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.]
achromatopsia DOID_13911 [A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.]
isolated elevated serum creatine phosphokinase levels DOID_0111338 [An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.]