Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Sex Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Sex Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Término preferido
Orofaciodigital Syndromes
Notice: Undefined index: in /var/www/html/model/Concept.php on line 545
Tipo
-
mesh:Descriptor
Definición
- Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Concepto genérico
Etiquetas alternativas
- Dysplasia Linguofacialis
- Oral-Facial-Digital Syndrome
- Orodigitofacial Dysostosis
- Orodigitofacial Syndrome
- Oro-Facio-Digital Syndrome
- Orofaciodigital Syndrome
En otras lenguas
-
francés
-
Dysostoses oro-digito-faciales
-
Syndrome oro-digito-facial
-
Syndrome oro-facio-digital
-
Syndrome orodigitofacial
URI
http://data.loterre.fr/ark:/67375/JVR-RKM32GJJ-B
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}