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Symbol Name ID |
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4 MGI:105089 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Dolichocephaly |
Scaphocephaly |
Micrognathia |
Retrognathia |
Microcephaly |
Macrocephaly |
Delayed cranial suture closure |
Large fontanelles |
Hammertoe |
Split hand |
Cubitus valgus |
Delayed skeletal maturation |
Pectus excavatum |
Thoracic hypoplasia |
Lumbar hyperlordosis |
Scoliosis |
Osteopenia |
Osteoporosis |
Calcific stippling |
| Disease(s) Associated with HSD17B4 | ||||||||||||||||||||
| D-bifunctional protein deficiency | ||||||||||||||||||||
| Perrault syndrome | ||||||||||||||||||||
| Stiff-Person syndrome |
| Mouse Phenotypes | abnormal tooth morphology |
abnormal sternum morphology |
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| Availability | Mouse Genotype | ||
| Hsd17b4em1(IMPC)Tcp/Hsd17b4em1(IMPC)Tcp | |||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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