Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| chromosome 17q12 duplication syndrome | DOID_0060433 | |
| chromosome 17q21.31 duplication syndrome | DOID_0060434 | |
| chromosome 1q21.1 duplication syndrome | DOID_0060435 | |
| chromosome 22q11.2 microduplication syndrome | DOID_0060436 | |
| chromosome 22q13 duplication syndrome | DOID_0060437 | |
| Cole-Carpenter syndrome | DOID_0060438 | [An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.] |
| osteogenesis imperfecta | DOID_12347 | [An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.] |
| lysinuric protein intolerance | DOID_0060439 | [An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.] |
| amino acid metabolic disorder | DOID_9252 | [An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.] |
| mandible | UBERON_0001684 | |
| intramembranous bone | UBERON_0002514 | |
| dentary | UBERON_0004742 | |
| Alternaria | NCBITaxon_5598 | |
| Pleosporaceae | NCBITaxon_28556 | |
| chromosome 16p11.2 duplication syndrome | DOID_0060430 | |
| chromosome 16p13.3 duplication syndrome | DOID_0060431 | |
| holocrine gland | UBERON_0012344 | |
| chromosomal disease | DOID_0080014 | [A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.] |
| ear | UBERON_0001690 | |
| external ear | UBERON_0001691 |