Details of PLOD3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PLOD3 | --- | O60568 | PLOD3_HUMAN | 8985
| --- | ENSG00000106397 | most of them involv |
Disease |
|---|
| Disease |
OMIM id |
| Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]: Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders |
which affects many collagens |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bleeding, Abnormal bone structure, Abnormal facial shape, Abnormal form of the vertebral bodies, Abnormal joint morphology, Abnormal location of ears, Abnormal nasal morphology, Abnormalities of the cerebral arteries, Abnormality involving the epiphyses of the limbs, Abnormality involving the epiphyses of the lower limbs, Abnormality of blood and blood-forming tissues, Abnormality of bone mineral density, Abnormality of connective tissue, Abnormality of femoral epiphyses, Abnormality of globe location, Abnormality of hair texture, 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 mouth shape, Abnormality of muscle morphology, Abnormality of refraction, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of the abdomen, Abnormality of the anterior segment of the eye, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral vasculature, Abnormality of the curvature of the vertebral column, Abnormality of the diaphragm, Abnormality of the ear, Abnormality of the elbow, Abnormality of the epiphyses, Abnormality of the epiphysis of the femoral head, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the femoral head, Abnormality of the femoral neck and head region, Abnormality of the femur, Abnormality of the foot, Abnormality of the hair, Abnormality of the hand, Abnormality of the head, Abnormality of the integument, Abnormality of the joints of the upper limbs, Abnormality of the lens, Abnormality of the lower limb, Abnormality of the midface, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the musculature of the hand, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nail, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the philtrum, Abnormality of the respiratory system, Abnormality of the sella turcica, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the systemic arterial tree, Abnormality of the upper limb, Abnormality of the vasculature, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the zygomatic arch, Absent epiphyses, All, Amyotrophy, Aneurysm, Anteverted nares, Aplasia/Hypoplasia of the capital femoral epiphysis, Autosomal recessive inheritance, Bruising susceptibility, Cataract, Cerebral aneurysm, Coarse hair, Cognitive impairment, Contractures of the joints of the upper limbs, Deformed sella turcica, Diaphragmatic eventration, Distal amyotrophy, Distal upper limb amyotrophy, Downturned corners of mouth, Elbow flexion contracture, Flexion contracture, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Growth delay, Hand muscle atrophy, Hearing abnormality, Hearing impairment, Hypoplasia of the capital femoral epiphysis, Intrauterine growth retardation, J-shaped sella turcica, Limb joint contracture, Limitation of joint mobility, Limited elbow movement, Long philtrum, Low-set ears, Malar flattening, Mode of inheritance, Morphological abnormality of the central nervous system, Myopia, Nail dysplasia, Osteopenia, Phenotypic abnormality, Platyspondyly, Positional foot deformities, Proptosis, Reduced bone mineral density, Scoliosis, Shallow orbits, Short nose, Subcutaneous hemorrhage, Talipes, Talipes equinovarus, Thenar muscle atrophy, Upper limb amyotrophy, Vascular skin abnormality.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Fatal error: Uncaught TypeError: count(): Argument #1 ($var) must be of type Countable|array, string given in /var/www/html/dbin/cnsb/metazoa/php/gene_details.php:895
Stack trace:
#0 {main}
thrown in /var/www/html/dbin/cnsb/metazoa/php/gene_details.php on line 895
