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| Ectodermal dysplasia v1.40 | PLEC | Arina Puzriakova Phenotypes for gene: PLEC were changed from PLEC-related Epidermolysis Bullosa; Epidermolysis bullosa simplex, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138 to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.3 | PLEC |
Ellen McDonagh gene: PLEC was added gene: PLEC was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEC were set to 20301336 Phenotypes for gene: PLEC were set to PLEC-related Epidermolysis Bullosa; Epidermolysis bullosa simplex, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138 |
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