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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).
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Browse vocabulary terms by beginning character |
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Human Diseases/Syndromes Beginning with "0-9"
To see all annotations for a disease, click the disease name.
| OMIM ID |
Human Disease |
| 264300 |
17-beta Hydroxysteroid Dehydrogenase III Deficiency |
| 300438 |
17-beta-Hydroxysteroid Dehydrogenase X Deficiency |
| 222745 |
2,4-dienoyl-Coa Reductase 1; DECR1 |
| 204750 |
2-aminoadipic 2-Oxoadipic Aciduria; AMOXAD |
| 610006 |
2-methylbutyryl-Coa Dehydrogenase Deficiency |
| 201810 |
3-beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of |
| 246450 |
3-hydroxy-3-Methylglutaryl-Coa Lyase Deficiency; HMGCLD |
| 142910 |
3-hydroxy-3-Methylglutaryl-Coa Reductase; HMGCR |
| 605911 |
3-hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency |
| 231530 |
3-hydroxyacyl-Coa Dehydrogenase Deficiency |
| 236795 |
3-hydroxyisobutyric Aciduria |
| 257920 |
3mc Syndrome 1; 3MC1 |
| 265050 |
3mc Syndrome 2; 3MC2 |
| 248340 |
3mc Syndrome 3; 3MC3 |
| 210200 |
3-methylcrotonyl-Coa Carboxylase 1 Deficiency |
| 210210 |
3-methylcrotonyl-Coa Carboxylase 2 Deficiency |
| 258501 |
3-methylglutaconic Aciduria, Type III; MGCA3 (1 mouse model) |
| 250950 |
3-methylglutaconic Aciduria, Type I; MGCA1 |
| 250951 |
3-methylglutaconic Aciduria, Type IV; MGCA4 |
| 610198 |
3-methylglutaconic Aciduria, Type V; MGCA5 |
| 614739 |
3-methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome; MEGDEL |
| 400045 |
46,xx Sex Reversal 1; SRXX1 |
| 278850 |
46,xx Sex Reversal 2; SRXX2 |
| 300833 |
46,xx Sex Reversal 3; SRXX3 |
| 611812 |
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs; |
| 607080 |
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy (1 mouse model) |
| 400044 |
46,xy Sex Reversal 1; SRXY1 |
| 300018 |
46,xy Sex Reversal 2; SRXY2 |
| 612965 |
46,xy Sex Reversal 3; SRXY3 |
| 154230 |
46,xy Sex Reversal 4; SRXY4 |
| 613080 |
46,xy Sex Reversal 5; SRXY5 |
| 613762 |
46,xy Sex Reversal 6; SRXY6 |
| 233420 |
46,xy Sex Reversal 7; SRXY7 |
| 614279 |
46,xy Sex Reversal 8; SRXY8 |
| 143460 |
5-hydroxytryptamine Oxygenase Regulator; HTOR |
| 260005 |
5-oxoprolinase Deficiency; OPLAHD |
| 172150 |
6-phosphogluconolactonase Deficiency |
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