PedAM
Pediatric Disease Annotations & Medicines
| Disease | dwarfism |
| Phenotype | C0013903|chondroectodermal dysplasia |
| Sentences | 2 |
| PubMedID- 20432822 | Ellis-van creveld syndrome or chondroectodermal dysplasia is a form of short-limbed dwarfism that affects the skeleton and skin appendages. |
| PubMedID- 21898032 | )ift80 (3q25.33)ift80/wdr56dync2h1 (11q22.3)dync2h1nek1 (4q33)nek1ttc21b (2q24.3)ift139/thm1ellis-van creveld syndrome (evc)chondroectodermal dysplasia with disproportionate short stature, acromesomelic shortening of limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth with oral frenulae, congenital heart defectsevc (4p16.2)evcmilder allelic dominant disorder: weyers acrodental dysostosisevc2 (4p16.2)evc2cranioectodermal dysplasia (ced/sensenbrenner syndrome)rhizomelic dwarfism, dolichocephaly, ectodermal defects (sparse slowly growing hair, dental and nail hypo-/dysplasia), progressive tubulointerstitial nephropathy, dpmift122 (3q21.3)ift122/wdr10wdr35 (2p24.1)ift121/wdr35c14orf179 (14q24.3)ift43most ciliopathies are primarily inherited in an autosomal recessive manner (or sometimes in an oligogenic way)dpm ductal plate malformation, pkd polycystic kidney diseasefig. |
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