All terms in DOID

Label Id Description
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 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.]
chromosome 16p13.3 duplication syndrome DOID_0060431 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.]
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
chromosome 5q12 deletion syndrome DOID_0060421 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.]
chromosomal deletion syndrome DOID_0060388 [A chromosomal disease that has_material_basis_in partial deletion of chromosomes.]
chromosome 6pter-p24 deletion syndrome DOID_0060422 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.]
chromosome 6q11-q14 deletion syndrome DOID_0060423 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.]
renal medulla UBERON_0000362