Terminology Service for NFDI4Health
All terms in CLO
| Label | Id | Description |
|---|---|---|
| DA05319 cell | CLO_0014200 | [ DIABETES MELLITUS FAMILY SAMPLE] |
| DA02976 cell | CLO_0014201 | [ DIABETES MELLITUS FAMILY SAMPLE] |
| DA02346 cell | CLO_0016862 | [ DIABETES MELLITUS FAMILY SAMPLE] |
| GM00739 cell | CLO_0028821 | [ EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION GROUP 6; ERCC6 COCKAYNE SYNDROME, TYPE B, INCLUDED; CSB, INCLUDED] |
| Cockayne syndrome | EFO_0000359 | [Caused by mutations of gene ERCC6., A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging., A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms., Caused by mutations of gene CKN1., An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function., Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.] |
| IGF023/83 cell | CLO_0004854 | |
| GM00752 cell | CLO_0028822 | [ HOMOCYSTINURIA] |
| IGF023/84 cell | CLO_0004855 | |
| GM00751 cell | CLO_0028823 | [ HOMOCYSTINURIA] |
| IGF023/79 cell | CLO_0004852 | |
| GM00747 cell | CLO_0028824 | [ HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I] |
| IGF023/81 cell | CLO_0004853 | |
| GM00744 cell | CLO_0028825 | [ OSTEOGENESIS IMPERFECTA: GENETICS UNCERTAIN; LETHAL] |
| IGF023/87 cell | CLO_0004858 | |
| IGF023/88 cell | CLO_0004859 | |
| GM00768 cell | CLO_0028826 | [ CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR CYSTIC FIBROSIS; CF] |
| GM00760 cell | CLO_0028827 | [ CYSTINOSIS, NEPHROPATHIC; CTNS CYSTINOSIN; CTNS] |
| IGF023/85 cell | CLO_0004856 | |
| GM00753 cell | CLO_0028828 | [ HOMOCYSTINURIA] |
| IGF023/86 cell | CLO_0004857 |