|
Symbol Name ID |
Abhd5
abhydrolase domain containing 5 MGI:1914719 |
| Darker colors indicate more annotations |
| Human Phenotypes | Aplasia/Hypoplasia of the eyebrow |
Palmoplantar hyperkeratosis |
Desquamation of skin soon after birth |
Erythroderma |
Alopecia |
Sparse hair |
Abnormality of the nail |
Nail dysplasia |
Nail dystrophy |
Hypohidrosis |
Lack of skin elasticity |
Epidermal acanthosis |
Scaling skin |
Palmoplantar scaling skin |
Dry skin |
Thickened skin |
Hyperkeratosis |
Ichthyosis |
Congenital ichthyosiform erythroderma |
Congenital nonbullous ichthyosiform erythroderma |
Parakeratosis |
Pruritus |
| Disease(s) Associated with ABHD5 | ||||||||||||||||||||||
| autosomal recessive congenital ichthyosis 1 | ||||||||||||||||||||||
| Chanarin-Dorfman syndrome |
| Mouse Phenotypes | abnormal keratinocyte differentiation |
impaired skin barrier function |
hyperkeratosis |
epidermis stratum spinosum hyperplasia |
abnormal skin development |
abnormal skin physiology |
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| Availability | Mouse Genotype | ||||||
| Abhd5tm1.1Rze/Abhd5tm1.1Rze | |||||||
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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