Tag: MONDO
Version: 2025-06-03
Format: obo
Organisms: All organisms
Original terms: 30128
Total terms: 56424
| Identifier | Name |
|---|---|
| MONDO:0017180 | 10q22.3q23.3 microduplication syndrome |
| MONDO:0017580 | 11p15.4 microduplication syndrome |
| MONDO:0018632 | 11q22.2q22.3 microdeletion syndrome |
| MONDO:0017781 | 12p12.1 microdeletion syndrome |
| MONDO:0019784 | 12q14 microdeletion syndrome |
| MONDO:0017334 | 12q15q21.1 microdeletion syndrome |
| MONDO:0018474 | 13q12.3 microdeletion syndrome |
| MONDO:0016835 | 14q11.2 microduplication syndrome |
| MONDO:0016833 | 14q12 microdeletion syndrome |
| MONDO:0018429 | 14q24.1q24.3 microdeletion syndrome |
| MONDO:0014707 | 14q32 duplication syndrome |
| MONDO:0017806 | 15q overgrowth syndrome |
| MONDO:0012081 | 15q11q13 microduplication syndrome |
| MONDO:0014822 | 15q14 microdeletion syndrome |
| MONDO:0016834 | 16p11.2p12.2 microduplication syndrome |
| MONDO:0044621 | 16p12.1p12.3 triplication syndrome |
| MONDO:0016836 | 16p13.11 microdeletion syndrome |
| MONDO:0016837 | 16p13.11 microduplication syndrome |
| MONDO:0018127 | 16q24.1 microdeletion syndrome |
| MONDO:0016838 | 16q24.3 microdeletion syndrome |
| MONDO:0800378 | 17,20-lyase deficiency, isolated |
| MONDO:0800379 | 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete |
| MONDO:0800380 | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial |
| MONDO:0015350 | 17q11.2 microduplication syndrome |
| MONDO:0035151 | 17q24.2 microdeletion syndrome |
| MONDO:0016765 | 19p13.12 microdeletion syndrome |
| MONDO:0018658 | 19p13.3 microduplication syndrome |
| MONDO:0017405 | 1p21.3 microdeletion syndrome |
| MONDO:0018697 | 1p35.2 microdeletion syndrome |
| MONDO:0016561 | 1q44 microdeletion syndrome |
| MONDO:0008774 | 2-aminoadipic 2-oxoadipic aciduria |
| MONDO:0022323 | 2-hydroxyethyl methacrylate sensitization |
| MONDO:0016001 | 2-hydroxyglutaric aciduria |
| MONDO:0022321 | 2-methylacetoacetyl CoA thiolase deficiency |
| MONDO:0012392 | 2-methylbutyryl-CoA dehydrogenase deficiency |
| MONDO:0016841 | 20p12.3 microdeletion syndrome |
| MONDO:0017780 | 20p13 microdeletion syndrome |
| MONDO:0018633 | 20q11.2 microdeletion syndrome |
| MONDO:0018204 | 20q11.2 microduplication syndrome |
| MONDO:0016843 | 20q13.33 microdeletion syndrome |
| MONDO:0016845 | 21q22.11q22.12 microdeletion syndrome |
| MONDO:1030016 | 22q-related schwannomatosis |
| MONDO:0018923 | 22q11.2 deletion syndrome |
| MONDO:0018207 | 2p13.2 microdeletion syndrome |
| MONDO:0015583 | 2p21 microdeletion syndrome |
| MONDO:0018245 | 2p21 microdeletion syndrome without cystinuria |
| MONDO:0016459 | 2q23.1 microdeletion syndrome |
| MONDO:0017786 | 2q23.1 microduplication syndrome |
| MONDO:0015566 | 2q24 microdeletion syndrome |
| MONDO:0016652 | 2q31.1 microdeletion syndrome |
| MONDO:0016653 | 2q33.1 microdeletion syndrome |
| MONDO:0010886 | 2q37 microdeletion syndrome |
| MONDO:0009520 | 3-hydroxy-3-methylglutaric aciduria |
| MONDO:0011614 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| MONDO:0017715 | 3-hydroxyacyl-CoA dehydrogenase deficiency |
| MONDO:0009371 | 3-hydroxyisobutyric aciduria |
| MONDO:0009603 | 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| MONDO:0007477 | 3-M syndrome |
| MONDO:0008861 | 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| MONDO:0008862 | 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| MONDO:0018950 | 3-methylcrotonyl-CoA carboxylase deficiency |
| MONDO:0017359 | 3-methylglutaconic aciduria |
| MONDO:0009610 | 3-methylglutaconic aciduria type 1 |
| MONDO:0009787 | 3-methylglutaconic aciduria type 3 |
| MONDO:0009611 | 3-methylglutaconic aciduria type 4 |
| MONDO:0012435 | 3-methylglutaconic aciduria type 5 |
| MONDO:0044723 | 3-methylglutaconic aciduria type 8 |
| MONDO:0044724 | 3-methylglutaconic aciduria type 9 |
| MONDO:0013875 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| MONDO:0859237 | 3-methylglutaconic aciduria, type VIIA |
| MONDO:0014561 | 3-methylglutaconic aciduria, type VIIB |
| MONDO:0018491 | 3-phosphoglycerate dehydrogenase deficiency |
| MONDO:0010117 | 3M syndrome 1 |
| MONDO:0013039 | 3M syndrome 2 |
| MONDO:0013627 | 3M syndrome 3 |
| MONDO:0017398 | 3MC syndrome |
| MONDO:0009770 | 3MC syndrome 1 |
| MONDO:0009927 | 3MC syndrome 2 |
| MONDO:0009554 | 3MC syndrome 3 |
| MONDO:0013424 | 3p- syndrome |
| MONDO:0018564 | 3p25.3 microdeletion syndrome |
| MONDO:0019878 | 3q26 microduplication syndrome |
| MONDO:0018156 | 3q26q27 microdeletion syndrome |
| MONDO:0018341 | 3q27.3 microdeletion syndrome |
| MONDO:0022330 | 4-hydroxyphenylacetic aciduria |
| MONDO:0015779 | 45,X/46,XY mixed gonadal dysgenesis |
| MONDO:0009299 | 46 XX gonadal dysgenesis |
| MONDO:0017576 | 46,XX disorder of sex development |
| MONDO:0017573 | 46,XX disorder of sex development-anorectal anomalies syndrome |
| MONDO:0009915 | 46,XX disorder of sex development-skeletal anomalies syndrome |
| MONDO:0014520 | 46,XX ovarian dysgenesis-short stature syndrome |
| MONDO:0016281 | 46,XX ovotesticular disorder of sex development |
| MONDO:0100250 | 46,XX sex reversal 1 |
| MONDO:0010218 | 46,XX sex reversal 2 |
| MONDO:0010442 | 46,XX sex reversal 3 |
| MONDO:0060489 | 46,XX sex reversal 4 |
| MONDO:0030049 | 46,xx sex reversal 5 |
| MONDO:0100249 | 46,XX testicular disorder of sex development |
| MONDO:0800381 | 46,XX true hermaphroditism, SRY-positive |
| MONDO:0010765 | 46,XY complete gonadal dysgenesis |