Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
regional part of nervous system	UBERON_0000073
Abnormality of skeletal muscles	HP_0040290
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.]
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.]
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 an autosomal recessive mutation of GBA 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 an autosomal recessive mutation of PSAP on chromosome 10q22.1.]
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.]
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 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.]
Enterobacteriaceae	NCBITaxon_543
Waardenburg syndrome type 4A	DOID_0110953	[A Waardenburg's 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's 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's 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.]