Activity
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| Monogenic short stature v0.25 | FGFR3 |
Arina Puzriakova gene: FGFR3 was added gene: FGFR3 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to Hypochondroplasia, OMIM:146000; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601 |
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| Monogenic short stature v0.2 | ACAN | Arina Puzriakova Entity copied from Growth failure in early childhood v3.76 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.2 | ACAN |
Arina Puzriakova gene: ACAN was added gene: ACAN was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACAN were set to 24762113; 27870580 Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD); ?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD); Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR) |
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