Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| polydactyly of a biphalangeal thumb, bilateral | MONDO_0017524 | |
| polydactyly of a triphalangeal thumb, unilateral | MONDO_0017525 | |
| polydactyly of a triphalangeal thumb | MONDO_0008270 | [A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.] |
| polydactyly of a triphalangeal thumb, bilateral | MONDO_0017526 | |
| Tetralogy of Fallot with absent pulmonary valve | HP_0011659 | [Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.] |
| symbrachydactyly of hand and foot, bilateral | MONDO_0017520 | |
| hyperphalangy, unilateral | MONDO_0017521 | |
| hyperphalangy | MONDO_0017455 | [Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.] |
| hyperphalangy, bilateral | MONDO_0017522 | |
| Cymbidium ringspot virus | NCBITaxon_12144 | |
| obsolete_heart-hand syndrome, Slovenian type | Orphanet_168796 | |
| Preaxial polydactyly of toes, bilateral | MONDO_0017538 | |
| Preaxial polydactyly of toes | MONDO_0017457 | |
| postaxial polydactyly type B, bilateral | MONDO_0017534 | |
| central polydactyly of fingers, unilateral | MONDO_0017535 | |
| central polydactyly of fingers | MONDO_0017456 | |
| central polydactyly of fingers, bilateral | MONDO_0017536 | |
| Preaxial polydactyly of toes, unilateral | MONDO_0017537 | |
| polysyndactyly, bilateral | MONDO_0017530 | |
| postaxial polydactyly type A, unilateral | MONDO_0017531 |