Details of LEPRE1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| LEPRE1 | GROS1 | P3H1 | Q32P28 | P3H1_HUMAN
| Q96BR8
| Q96SK8 | Q9HC86 |
Phenotypes
Abdominal wall defect, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone collagen fibril morphology, Abnormal bone ossification, Abnormal bone structure, Abnormal diaphysis morphology, Abnormal facial shape, Abnormal form of the vertebral bodies, Abnormal joint morphology, Abnormality involving the diaphyses of the limbs, Abnormality of body height, Abnormality of bone mineral density, Abnormality of connective tissue, Abnormality of cranial sutures, Abnormality of fontanelles, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skull ossification, Abnormality of the abdomen, Abnormality of the abdominal wall, Abnormality of the anterior fontanelle, Abnormality of the calf, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the eye, Abnormality of the face, Abnormality of the femur, Abnormality of the fontanelles and cranial sutures, Abnormality of the forearm, Abnormality of the hand, Abnormality of the head, Abnormality of the lower limb, Abnormality of the metacarpal bones, Abnormality of the mouth, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the radius, Abnormality of the rib cage, Abnormality of the ribs, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the teeth, Abnormality of the thorax, Abnormality of the tibia, Abnormality of the upper limb, Abnormality of the vertebrae, Abnormality of the vertebral column, All, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the extremities, Autosomal recessive inheritance, Barrel-shaped chest, Bowed forearm bones, Bowing of the arm, Bowing of the legs, Bowing of the long bones, Cognitive impairment, Decreased skull ossification, Disproportionate short stature, Enlarged thorax, Externally rotated/abducted legs, Femoral bowing, Global developmental delay, Growth abnormality, Growth delay, Hernia, Hernia of the abdominal wall, Increased susceptibility to fractures, Inguinal hernia, Joint hypermobility, Joint laxity, Kyphosis, Large fontanelles, Mode of inheritance, Multiple prenatal fractures, Osteopenia, Phenotypic abnormality, Platyspondyly, Proptosis, Radial bowing, Recurrent fractures, Reduced bone mineral density, Round face, Scoliosis, Short metacarpal, Short stature, Thin ribs, Thoracoabdominal wall defects, Tibial bowing, Type 1 collagen overmodification, Vertebral compression fractures, Wide anterior fontanel, Wormian bones.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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