All terms in DOID

Label Id Description
congenital structural myopathy DOID_422 [A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.]
skin of clavicle region UBERON_8480025
Ehlers-Danlos syndrome classic type 1 DOID_14720 [An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.]
beta-ketothiolase deficiency DOID_14723 [An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.]
skin of external genitalia UBERON_8480029
autosomal dominant microcephaly DOID_14725 [A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.]
Atrophy/Degeneration affecting the cerebrum HP_0007369
Aplasia/Hypoplasia of the cerebrum HP_0007364
obsolete dominant cogenital severe sensorineural deafness DOID_14727
Weaver syndrome DOID_14731 [A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.]
craniofrontonasal syndrome DOID_14737 [A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.]
pulmonary sarcoidosis DOID_13406 [A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.]
sarcoidosis DOID_11335 [A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.]
cardiac sarcoidosis DOID_13405 [A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.]
uveoparotid fever DOID_13404 [A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve.]
neurosarcoidosis DOID_13403 [A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.]
skin sarcoidosis DOID_13402
angioid streaks DOID_13401
Klebsiella granulomatis NCBITaxon_39824
Klebsiella NCBITaxon_570