Symbol Name ID |
Gh
growth hormone MGI:95707 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal skull morphology |
Micrognathia |
Retrognathia |
Malar flattening |
Shallow orbits |
Microcephaly |
Relative macrocephaly |
Persistent open anterior fontanelle |
Enamel hypoplasia |
Short neck |
Genu valgum |
Osteolytic defects of the distal phalanges of the hand |
Partial duplication of thumb phalanx |
Triphalangeal thumb |
Absent thumb |
Short thumb |
Coxa valga |
Acromicria |
Hip dislocation |
Limitation of movement at ankles |
Limited wrist movement |
Aortic valve calcification |
Mitral valve calcification |
Limited shoulder movement |
Limitation of joint mobility |
Joint stiffness |
Limited hip movement |
Delayed skeletal maturation |
Avascular necrosis |
Abnormality of the skeletal system |
Abnormal thorax morphology |
Short clavicles |
Progressive clavicular acroosteolysis |
Sprengel anomaly |
Scoliosis |
Reduced bone mineral density |
Generalized osteoporosis |
Osteolysis |
Osteoarthritis |
Osteosarcoma |
Ectopic calcification |
Disease(s) Associated with GH1 | |||||||||||||||||||||||||||||||||||||||||
autoimmune polyendocrine syndrome type 1 | |||||||||||||||||||||||||||||||||||||||||
beta thalassemia | |||||||||||||||||||||||||||||||||||||||||
Diamond-Blackfan anemia | |||||||||||||||||||||||||||||||||||||||||
isolated growth hormone deficiency | |||||||||||||||||||||||||||||||||||||||||
isolated growth hormone deficiency type IA | |||||||||||||||||||||||||||||||||||||||||
isolated growth hormone deficiency type IB | |||||||||||||||||||||||||||||||||||||||||
isolated growth hormone deficiency type II | |||||||||||||||||||||||||||||||||||||||||
progeria |
Mouse Phenotypes | abnormal bone structure |
decreased bone mineral content |
decreased bone mineral density |
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Availability | Mouse Genotype | |||
Ghtm1.1(KOMP)Vlcg/Ghtm1.1(KOMP)Vlcg |
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 05/07/2024 MGI 6.23 |
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