All terms in DOID

Label Id Description
Mulvihill-Smith syndrome DOID_0061154 [A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development.]
kyphomelic dysplasia DOID_0061155 [A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.]
acute intermittent porphyria DOID_3890
CASGID syndrome DOID_0061156 [A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32.]
morphine dependence DOID_2560 [An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.]
placental insufficiency DOID_3891 [A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.]
retinopathy sensory neuropathy syndrome DOID_0061157 [A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.]
insulinoma DOID_3892 [A pancreatic cystadenoma that is characterized by the overproduction of insulin.]
hidrocystoma DOID_3893
suppurative periapical periodontitis DOID_2562
obsolete Serratia septicemia DOID_2563
apocrine adenoma DOID_3895
macular corneal dystrophy DOID_2565 [A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.]
obsolete skin appendage adenoma DOID_3898
obsolete primary Enterobacteriaceae infectious disease DOID_2567
obsolete skin appendage neoplasm DOID_3899
obsolete acute erythremia and erythroleukemia DOID_1239
melanotic medulloblastoma DOID_3868
Landau-Kleffner syndrome DOID_2538 [A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.]
childhood medulloblastoma DOID_3869