All terms in DOID

Label Id Description
Leber congenital amaurosis 13 DOID_0110330 [A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.]
ectodermal dysplasia 8 DOID_0111661 [An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.]
Kohlschutter-Tonz syndrome DOID_0111668 [A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.]
osteogenesis imperfecta type 7 DOID_0110337 [An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.]
hyaline fibromatosis syndrome DOID_0111669 [A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.]
osteogenesis imperfecta type 17 DOID_0110338 [An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome DOID_0111666 [A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.]
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures DOID_0110335 [An osteogenesis imperfecta found in a single South African family.]
enterokinase deficiency DOID_0111667 [An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.]
osteogenesis imperfecta type 8 DOID_0110336 [An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.]
ectodermal dysplasia 1 DOID_0111664 [A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.]
Leber congenital amaurosis 7 DOID_0110333 [A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13.]
osteogenesis imperfecta type 1 DOID_0110334 [An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.]
ectodermal dysplasia 10B DOID_0111665 [A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13.]
ectodermal dysplasia 14 DOID_0111662 [An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.]
Leber congenital amaurosis 3 DOID_0110331 [A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31.]
Leber congenital amaurosis 4 DOID_0110332 [A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.]
ectodermal dysplasia 10A DOID_0111663 [A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13.]
osteogenesis imperfecta type 3 DOID_0110339 [An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.]
susceptibility to polysubstance abuse MIM_606581