All terms in DOID

Label Id Description
Neu-Laxova syndrome 1 DOID_0080076 [A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.]
hypophosphatemic nephrolithiasis/osteoporosis 1 DOID_0080077 [A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.]
mucolipidosis II alpha/beta DOID_0080070 [A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.]
mucolipidosis III alpha/beta DOID_0080071 [A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.]
intestinal pseudo-obstruction DOID_0080072 [A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.]
spina bifida occulta DOID_0080073 [A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.]
Abnormal chorioretinal morphology HP_0000532
obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy DOID_0081376 [A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.]
Kniest dysplasia DOID_0080045 [An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.]
Stickler syndrome DOID_0080046 [A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.]
pseudoachondroplasia DOID_0080047 [An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.]
amyotrophic lateral sclerosis type 24 DOID_0081378 [An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.]
amyotrophic lateral sclerosis DOID_332 [A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.]
obsolete trichorhinophalangeal syndrome I DOID_0080048
amyotrophic lateral sclerosis type 25 DOID_0081379 [An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).]
obsolete neoplasm of body of uterus DOID_5070
obsolete meninges gliomatosis DOID_5072
obsolete central nervous system soft tissue neoplasm DOID_5071
basosquamous carcinoma DOID_5063
phencyclidine abuse DOID_5062 [A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.]