All terms in DOID

Label Id Description
nemaline myopathy 11 DOID_0110933 [A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.]
oral tuberculosis DOID_402 [A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible.]
nemaline myopathy 7 DOID_0110934 [A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.]
multidrug-resistant tuberculosis DOID_401 [A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.]
regional part of nervous system UBERON_0000073
tropical fruit FOODON_00003567
scrotum UBERON_0001300
brachydactyly type A2 DOID_0110965 [A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.]
epididymis UBERON_0001301
brachydactyly-preaxial hallux varus syndrome DOID_0110962 [A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.]
Ballard syndrome DOID_0110963 [A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature.]
shrimp food product FOODON_00002239
Gaucher's disease perinatal lethal DOID_0110960 [A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.]
Gaucher's disease DOID_1926 [A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.]
atypical Gaucher's disease due to saposin c deficiency DOID_0110961 [A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.]
Malassezia furfur NCBITaxon_55194
Malassezia NCBITaxon_55193
rete testis UBERON_0003959
brachydactyly type A6 DOID_0110968 [A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.]
brachydactyly type B1 DOID_0110969 [A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.]