All terms in DOID

Label Id Description
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.]
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
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.]
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.]
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.]