| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
|
| D008240 |
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase |
A mixed-function oxygenase that catalyzes the hydroxylation of peptidyllysine, usually in protocollagen, to peptidylhydroxylysine. The enzyme utilizes molecular oxygen with concomitant oxidative decarboxylation of the cosubstrate 2-oxoglutarate to succinate. EC 1.14.11.4. |
Lysine 2-Oxoglutarate Dioxygenase,Lysine Hydroxylase,Protocollagen Lysyl Hydroxylase,Collagen Lysyl Hydroxylase,Lysyl Hydroxylase,2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine,2-Oxoglutarate Dioxygenase, Lysine,5-Dioxygenase Procollagen-Lysine, 2-Oxoglutarate,Dioxygenase, Lysine 2-Oxoglutarate,Hydroxylase, Collagen Lysyl,Hydroxylase, Lysine,Hydroxylase, Lysyl,Hydroxylase, Protocollagen Lysyl,Lysine 2 Oxoglutarate Dioxygenase,Procollagen Lysine, 2 Oxoglutarate 5 Dioxygenase |
|
| D008297 |
Male |
|
Males |
|
| D010013 |
Osteogenesis Imperfecta |
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. |
Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas |
|
| D003241 |
Consanguinity |
The magnitude of INBREEDING in humans. |
Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000015 |
Abnormalities, Multiple |
Congenital abnormalities that affect more than one organ or body structure. |
Multiple Abnormalities |
|
| D001176 |
Arthrogryposis |
Persistent flexure or contracture of a joint. |
Amyoplasia Congenita,Arthromyodysplasia, Congenital,Guerin-Stern Syndrome,Myodystrophia Fetalis Deformans,Arthrogryposis Multiplex Congenita,Arthrogryposis Multiplex Congenita (AMC),Congenital Arthromyodysplasia,Congenital Multiple Arthrogryposis,Fibrous Ankylosis of Multiple Joints,Guérin-Stern Syndrome,Otto Syndrome,Rocher-Sheldon Syndrome,Rossi Syndrome,Arthrogryposes,Arthrogryposes, Congenital Multiple,Arthrogryposis Multiplex Congenitas,Arthrogryposis Multiplex Congenitas (AMC),Arthrogryposis, Congenital Multiple,Arthromyodysplasias, Congenital,Congenita, Arthrogryposis Multiplex,Congenita, Arthrogryposis Multiplex (AMC),Congenital Arthromyodysplasias,Congenital Multiple Arthrogryposes,Congenitas, Arthrogryposis Multiplex,Congenitas, Arthrogryposis Multiplex (AMC),Guerin Stern Syndrome,Guérin Stern Syndrome,Multiple Arthrogryposes, Congenital,Multiple Arthrogryposis, Congenital,Multiplex Congenita, Arthrogryposis,Multiplex Congenita, Arthrogryposis (AMC),Multiplex Congenitas, Arthrogryposis,Multiplex Congenitas, Arthrogryposis (AMC),Rocher Sheldon Syndrome,Syndrome, Guerin-Stern,Syndrome, Guérin-Stern,Syndrome, Otto,Syndrome, Rocher-Sheldon,Syndrome, Rossi |
|
| D013577 |
Syndrome |
A characteristic symptom complex. |
Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes |
|
| D017809 |
Fatal Outcome |
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. |
Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal |
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