All terms in DOID

Label Id Description
retinitis pigmentosa 11 DOID_0110408 [A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.]
X-linked deafness 1 DOID_0111739 [An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.]
X-linked deafness 3 DOID_0111736 [An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.]
retinitis pigmentosa 36 DOID_0110405 [A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25.]
retinitis pigmentosa 30 DOID_0110406 [A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25.]
X-linked deafness 2 DOID_0111737 [An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.]
obsolete Angiostrongylus costaricensis infectious disease DOID_0050258 [An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity.]
obsolete Angiostrongylus cantonensis infectious disease DOID_0050257 [An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur.]
baylisascariasis DOID_0050259 [A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.]
obsolete penile non-neoplastic disease DOID_1528
obsolete atrophy of thyroid DOID_2853
nodular nonsuppurative panniculitis DOID_1525
obsolete Tritrichomonadida infectious disease DOID_0050241 [A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body.]
obsolete Trichomonadida infectious disease DOID_0050240 [A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole.]
obsolete Apicomplexa infectious disease DOID_0050243 [An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans.]
obsolete male non-neoplastic reproductive system disease DOID_1530
primary amebic meningoencephalitis DOID_0050242 [A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.]
obsolete Aconoidasida infectious disease DOID_0050245 [An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.]
obsolete Coccidia infectious disease DOID_0050244 [An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans.]
Jacobsen Syndrome DOID_0111723 [A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.]