p3h1 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (172)

Interactants (32)

XB-GENEPAGE-989358

Gene Symbol: p3h1 Gene Name: prolyl 3-hydroxylase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (56 sources): Abnormality of the nervous system, Abnormal pelvic girdle bone morphology, Abnormal thorax morphology, Absent ossification of calvaria, Barrel-shaped chest, Basilar impression, Biconcave vertebral bodies, Blue sclerae, Bowing of limbs due to multiple fractures, Broad long bones, Congestive heart failure, Convex nasal ridge, Crumpled long bones, Decreased calvarial ossification, Decreased skull ossification, Delayed cranial suture closure, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Femoral bowing, Frontal bossing, Global developmental delay, Hearing impairment, Kyphosis, Large fontanelles, Micrognathia, Multiple prenatal fractures, Neonatal short-limb short stature, Nonimmune hydrops fetalis, obsolete Beaded ribs, obsolete Externally rotated/abducted legs, obsolete Joint laxity, Osteopenia, Platybasia, Platyspondyly, Premature birth, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonic regurgitation, Radial bowing, Recurrent fractures, Respiratory insufficiency, Round face, Scoliosis, Severe generalized osteoporosis, Short metacarpal, Slender long bone, Small for gestational age, Thin ribs, Thin skin, Tibial bowing, Triangular face, Type 1 collagen overmodification, Vertebral compression fracture, Wide anterior fontanel, Wormian bones [+]
Mouse (20 sources): abnormal adipose tissue amount, abnormal body length, abnormal bone mineralization, abnormal dermal layer morphology, abnormal dermis reticular layer collagen network, abnormal grip strength, abnormal heart rate, abnormal limb position, abnormal long bone hypertrophic chondrocyte zone, decreased body length, decreased body size, decreased bone mineral content, decreased bone trabecula number, decreased grip strength, decreased trabecular bone mass, decreased trabecular bone thickness, decreased trabecular bone volume, delayed bone ossification, disproportionate dwarf, increased total body fat amount [+]
View all ortholog results at Monarch