Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
subependymal giant cell astrocytoma	DOID_5077
endometriosis of pelvic peritoneum	DOID_11429	[A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum.]
endometriosis of intestine	DOID_11428	[A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine.]
obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid	DOID_12758
endosalpingiosis	DOID_11427	[A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.]
acromesomelic dysplasia, Grebe type	DOID_0080052	[An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.]
Albright's hereditary osteodystrophy	DOID_0080053	[An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.]
pseudohypoparathyroidism	DOID_4184
achondrogenesis type IA	DOID_0080054	[An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.]
achondrogenesis type IB	DOID_0080055	[An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.]
acromesomelic dysplasia, Maroteaux type	DOID_0080050	[An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.]
limb	UBERON_0002101
Abnormality of eosinophils	HP_0001879	[An eosinophil abnormality.]
acromesomelic dysplasia, Hunter-Thompson type	DOID_0080051	[An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.]
alpha_beta_motif	SO_0100008	[A motif of five consecutive residues and two H-bonds in which: H-bond between CO of residue(i) and NH of residue(i+4), H-bond between CO of residue(i) and NH of residue(i+3),Phi angles of residues(i+1), (i+2) and (i+3) are negative.]
lipoprotein_signal_peptide	SO_0100009	[A peptide that acts as a signal for both membrane translocation and lipid attachment in prokaryotes.]
spondyloepimetaphyseal dysplasia, Strudwick type	DOID_0080028	[A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).]
Platyspondyly	HP_0000926	[A flattened vertebral body shape with reduced distance between the vertebral endplates.]
Hyperlordosis	HP_0003307	[Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.]
Pectus carinatum	HP_0000768	[A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.]