All terms in DOID

Label Id Description
brachydactyly type A3 DOID_0110966 [A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger.]
brachydactyly type A4 DOID_0110967 [A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.]
vitamin B12 deficiency DOID_0050731 [A vitamin metabolic disorder that results from low blood levels of vitamin B12.]
methylmalonic aciduria and homocystinuria type cblG DOID_0050733 [A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.]
methylmalonic aciduria and homocystinuria type cblE DOID_0050732 [A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.]
congenital intrinsic factor deficiency DOID_0050734 [A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.]
snail food product FOODON_00002244
mollusc food product FOODON_00002044
Waardenburg syndrome type 4A DOID_0110953 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.]
Waardenburg syndrome type 4B DOID_0110954 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.]
Waardenburg syndrome type 2C DOID_0110951 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23.]
obsolete Waardenburg syndrome type 2D DOID_0110952 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11.]
Waardenburg syndrome type 2A DOID_0110950 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.]
tyrosinemia type III DOID_0050727 [A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.]
Chanarin-Dorfman syndrome DOID_0050729 [A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.]
Gaucher's disease type I DOID_0110957 [A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.]
Gaucher's disease type II DOID_0110958 [A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.]
Waardenburg syndrome type 4C DOID_0110955 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.]
Waardenburg syndrome type 2E DOID_0110956 [A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.]
ornithine translocase deficiency DOID_0050720 [An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.]