All terms in DOID

Label Id Description
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.]
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.]
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.]
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.]
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.]
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.]
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.]
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.]
logopenic progressive aphasia DOID_0081389 [A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers.]
autosomal recessive spinocerebellar ataxia 14 DOID_0080058 [An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.]
autosomal recessive spinocerebellar ataxia 7 DOID_0080059 [An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.]
Abnormality of thrombocytes HP_0001872
lacrimal duct cancer DOID_12756
lacrimal system cancer DOID_292
susceptibility to autism 10 MIM_611016
fallopian tube endometriosis DOID_11424 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.]
susceptibility to autism 9 MIM_611015