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Enfermedad de Menkes | Sobre la enfermedad | GARD La enfermedad de Menkes es un trastorno que afecta a los niveles de cobre en el cuerpo Se caracteriza por cabello ralo y ensortijado; retraso del crecimiento; y deterioro progresivo del sistema nervioso
Muenke syndrome | About the Disease | GARD Muenke Syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development This affects the shape of the head and face Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay Muenke Syndrome is caused by genetic changes in the FGFR3 gene It is inherited in an
Diseases | GARD DiseasesBrowse by Disease Explore GARD's list of rare diseases Filter by category or search by disease name, acronym, or synonym Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH
Cutis laxa, X-linked | About the Disease | GARD This condition is a milder form of Menkes disease, which affects copper levels in the body OHS is caused by genetic changes (DNA variants) in the ATP7A gene, and it is inherited in an x-linked recessive pattern It can be diagnosed based on the symptoms, genetic testing, and other blood tests
Flat face-microstomia-ear anomaly syndrome Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned
Síndrome de Hennekam | Sobre la enfermedad | GARD El síndrome de Hennekam es una enfermedad hereditaria que resulta de malformación del sistema linfático que está compuesto por una red de vasos que transportan un líquido llamado linfa en todo el cuerpo La linfa contiene glóbulos blancos que protegen el cuerpo contra los gérmenes El sistema linfático elimina la infección y mantiene el equilibrio de los líquidos del cuerpo Si no
Shprintzen-Goldberg syndrome | About the Disease | GARD Shprintzen-Goldberg syndrome is caused by genetic mutations, also known as pathogenic variants Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these
About | GARD - Genetic and Rare Diseases Information Center What should you know about GARD? GARD is a program of the National Institutes of Health that provides free access to reliable, easy-to-understand information about genetic and rare diseases