amelogenesis imperfecta type 2
MONDO:0015048Mondo
Findings
No curated finding names amelogenesis imperfecta type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GPR68HGNC:4519
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:461HGNC:461
- Supportive · Orphanet · Autosomal recessive · 2021
- KLK4HGNC:6365
- Supportive · Orphanet · Autosomal recessive · 2021
- MMP20HGNC:7167
- Supportive · Orphanet · Autosomal recessive · 2021
- ODAPHHGNC:26300
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC24A4HGNC:10978
- Supportive · Orphanet · Autosomal recessive · 2021
- WDR72HGNC:26790
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (7)
- amelogenesis imperfecta hypomaturation type 2A2
- amelogenesis imperfecta hypomaturation type 2A3
- amelogenesis imperfecta hypomaturation type 2A4
- amelogenesis imperfecta hypomaturation type 2A5
- amelogenesis imperfecta type 1E
- amelogenesis imperfecta type 2A1
- amelogenesis imperfecta, hypomaturation type, IIa6
Other names
1 name
Resolves to: amelogenesis imperfecta type 2
- Also called
- hypomaturation amelogenesis imperfecta