All terms in DOID

Label Id Description
Kenny-Caffey syndrome type 2 DOID_0080723 [A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.]
Ehlers-Danlos syndrome arthrochalasia type 2 DOID_0080728 [An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.]
Ehlers-Danlos syndrome DOID_13359 [A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.]
meropenem CHEBI_43968
carbapenemcarboxylic acid CHEBI_46634
brittle cornea syndrome 2 DOID_0080729 [An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.]
BASAN syndrome DOID_0080725 [An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet.]
Ehlers-Danlos syndrome classic type 2 DOID_0080726 [An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.]
Ehlers-Danlos syndrome arthrochalasia type 1 DOID_0080727 [An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.]
obsolete plasmacytoma-like PTLD DOID_7801
obsolete nonmetastatic extraskeletal osteosarcoma DOID_7805
sphenoorbital meningioma DOID_7819
body of uterus UBERON_0009853
Ehlers-Danlos syndrome classic-like 1 DOID_0080731 [An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.]
Ehlers-Danlos syndrome classic-like 2 DOID_0080732 [An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.]
mixed astrocytoma-ependymoma-oligodendroglioma DOID_7817
Ehlers-Danlos syndrome dermatosparaxis type DOID_0080733 [An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.]
petroclival meningioma DOID_7818
Ehlers-Danlos syndrome kyphoscoliotic type 1 DOID_0080734 [An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.]
[Emmonsia] crescens NCBITaxon_73230