All terms in DOID

Label Id Description
substance abuse DOID_302 [A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.]
obsolete Trichomonas urethritis DOID_11418 [A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination.]
obsolete uterine corpus soft tissue neoplasm DOID_5069
lacrimoauriculodentodigital syndrome 3 DOID_0081372 [A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.]
LADD syndrome DOID_0081370 [A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.]
hypochondroplasia DOID_0080041 [An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.]
disabling pansclerotic morphea DOID_0081373 [A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone.]
localized scleroderma DOID_8472
autosomal recessive spinocerebellar ataxia 18 DOID_0080042 [An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.]
achondrogenesis DOID_0080043 [An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.]
nemaline myopathy 5B DOID_0081374 [A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.]
nemaline myopathy 5C DOID_0081375 [A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.]
hypochondrogenesis DOID_0080044 [An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.]
Leptotrombidium deliense NCBITaxon_299467
Leptotrombidium NCBITaxon_279271
fibrogenesis imperfecta ossium DOID_0080040 [A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.]
lacrimoauriculodentodigital syndrome 2 DOID_0081371 [A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.]
achondrogenesis type II DOID_0080056 [An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.]
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities DOID_0081387 [An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.]
autosomal recessive spinocerebellar ataxia 15 DOID_0080057 [An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29.]