Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Takenouchi-Kosaki Syndrome | CDC42 | macrothrombocytopenia and mental retardation syndrome | 616737 | autosomal dominant |
| Tangier Disease | ABCA1 | high density lipoprotein deficiency type 1, HDLDT1, analphalipoproteinemia | 205400 | autosomal recessive |
| Tay-Sachs Disease | HEXA | GM2-gangliosidosis, hexosaminidase A deficiency, HEXA deficiency, TSD | 272800 | autosomal recessive |
| Temtamy Syndrome | C12orf57 | colobomas, seizures, intellectual disability, corpus callosum hypoplasia syndrome, TEMTYS | 218340 | autosomal recessive |
| Tenorio Syndrome | RNF125 | TNORS, overgrowth macrocephaly and intellectual disability syndrome | 616260 | autosomal dominant |
| Treacher Collins-Franceschetti Syndrome | TCOF1 | TCOF, Treacher Collins syndrome, TCS, mandibulofacial dysostosis, MFD1 | 154500 | autosomal dominant |
| Trichomegaly Plus Syndrome | ? | Oliver-McFarlane syndrome, long eyelashes with mental retardation | 275400, 204110 | autosomal recessive? |
| Tuberous Sclerosis 1 | TSC1 | tuberous sclerosis complex, TS, tuberose sclerosis, TSC, Bourneville disease | 191100 | autosomal dominant |
| Tuberous Sclerosis 2 | TSC2 | tuberous sclerosis complex, TS, tuberose sclerosis, TSC2 | 613254 | autosomal dominant |
| Tyrosinemia, Type II | TAT | oculocutaneous tyrosinosis, Richner-Hanhart syndrome, TAT deficiency, keratosis palmoplantaris with corneal dystrophy, Oregon type tyrosinemia, tyrosine aminotransferase deficiency | 276600 | autosomal recessive |