| D007494 |
Ireland |
A country in western Europe, occupying five-sixths of the island of Ireland in the North Atlantic Ocean, west of Great Britain. The capital is Dublin. |
Eire,Ireland, Republic of,Irish Free State |
|
| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
|
| D010375 |
Pedigree |
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. |
Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical |
|
| D003490 |
Cyanosis |
A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. |
Cyanoses |
|
| D005260 |
Female |
|
Females |
|
| D005799 |
Genes, Dominant |
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. |
Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant |
|
| D006449 |
Hemoglobin M |
A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha or beta chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis. |
|
|
| D006453 |
Hemoglobinopathies |
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. |
Hemoglobinopathy |
|
| D006455 |
Hemoglobins, Abnormal |
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. |
Abnormal Hemoglobins |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|