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| Hirschsprung disease v0.28 | Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.28 | PHOX2B_CCHS_GCN |
Bryony Thompson STR: PHOX2B_CCHS_GCN was added STR: PHOX2B_CCHS_GCN was added to Hirschsprung disease. Sources: Expert Review Green,Expert list paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN. Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833 Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 |
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