All terms in DOID

Label Id Description
Vohwinkel syndrome DOID_0111339 [A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.]
achromatopsia 3 DOID_0110008 [An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.]
craniofacial-deafness-hand syndrome DOID_0111336 [A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.]
Leber congenital amaurosis 9 DOID_0110005 [A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36.]
3-methylglutaconic aciduria type 4 DOID_0110006 [A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.]
Jackson-Weiss syndrome DOID_0111337 [A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.]
congenital leptin deficiency DOID_0111334 [A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.]
3-methylglutaconic aciduria type 3 DOID_0110004 [A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.]
myopathy with extrapyramidal signs DOID_0111335 [A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.]
Clonorchis sinensis NCBITaxon_79923
Clonorchis NCBITaxon_79922
Pitt-Hopkins-like syndrome 2 DOID_0111332 [A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome DOID_0110001 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.]
Opisthorchiidae NCBITaxon_6196
3-methylglutaconic aciduria type 1 DOID_0110002 [A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.]
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome DOID_0111333 [A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.]
Actinomyces viscosus NCBITaxon_1656
Actinomyces naeslundii NCBITaxon_1655
achromatopsia 7 DOID_0110009 [An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.]
Actinomyces israelii NCBITaxon_1659