No abstract available.
Phenotype*

No abstract available.
Humans ; Phenotype*

No Abstract Available.
Chondrocytes* ; Phenotype*

No abstract available.
Phenotype* ; Thalassemia*

No abstract available.
Humans ; Phenotype*

No abstract available.
Asthma* ; Phenotype*

Introduction: Kidd blood group system is distributed differently within populations. In Malaysia, the prevalence of Kidd phenotypes have been reported but not in Hospital Umum Sarawak (HUS).We characterised Kidd phenotypes among regular blood donors in HUS. Methods: A cross-sectional study was done from 1st September 2015 to 10th September 2015. Blood samples were collected from 250 regular blood donors of different ethnicities in HUS. Samples were then investigated for Kidd blood group phenotypes by utilising Seraclon anti-Jka and anti-Jkb reagents employing the Diamed-ID gel card system. Results: Phenotype Jk(a+b+) was found in 110 out of 250 (44.0%) and phenotype Jk (a-b-) phenotype in seven out of 250 (2.8%) blood donors. Jk(a+b-) was detected in 60 out of 250 (24.0%) and Jk(a-b+) in 73 out of 250 (29.2%) donors. Kidd phenotype was detected in four ethnics; Chinese 50.8%, Malays 38.4%, Bidayuh 10.0% and Iban 0.8%. Jk(a-b-) phenotype was present only in the Malays; seven out of 250 (2.8%) but not found in other ethnicities. Conclusion: Jk(a+b+) is the most common Kidd phenotype found in regular blood donors in HUS in the four ethnicities studied. Only Malays exhibit the Jk(a-b-) phenotype which is a rare phenotype. The results of this study may serve as a preliminary database for Kidd blood group profile of regular blood donors in HUS.
; Kidd phenotype

Objectives: To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia(CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization. Methodology: Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types. Results: The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development(Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14),prominentAdam’s apple (9) and hirsutism (4) were found only in SV types Rapid growth (7) and precocious puberty (8)were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization(r=0.19, p>0.05). Conclusion Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skinhyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty withregard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlationbetween 17-OHP levels with the degree of virilization in CAH females
Phenotype ; Virilism

Online Mendelian Inheritance in Man (OMIM) is a knowledge source and data base for human genetic diseases and related genes. Each OMIM entry includes clinical synopsis, linkage analysis for candidate genes, chromosomal localization and animal models, which has become an authoritative source of information for the study of the relationship between genes and diseases. As overlap of disease symptoms may reflect interactions at the molecular level, comparison of phenotypic similarity may indicate candidate genes and help to discover functional connections between genes and proteins. However, the OMIM has used free text to describe disease phenotypes, which does not suit computer analysis. Standardization of OMIM data therefore has important implications for large-scale comparison of disease phenotypes and prediction of phenotype-genotype correlations. Recently, standard medical language systems, term frequency-inverse document frequency and the law of cosines for document classification have been introduced for mining of OMIM data. Combined with Gene Ontology and various comparison methods, this has achieved substantial successes. In this article, we have reviewed various methods for standardization and similarity comparison of OMIM data. We also predicted the trend for research in this direction.
Databases, Genetic ; Humans ; Phenotype

The Korean Rice Ds-tagging lines Database (KRDD) is designed to provide information about Ac/Ds insertion lines and activation tagging lines using japonica rice. This database has provided information on 18,158 Ds lines, which includes the ID, description, photo image, sequence information, and gene characteristics. The KRDD is visualized using a web-based graphical view, and anonymous users can query and browse the data using the search function. It has four major menus of web pages: (i) a Blast Search menu of a mutant line; Blast from rice Ds-tagging mutant lines; (ii) a primer design tool to identify genotypes of Ds insertion lines; (iii) a Phenotype menu for Ds lines, searching by identification name and phenotype characteristics; and (iv) a Management menu for Ds lines.
Anonyms and Pseudonyms ; Genotype ; Phenotype