Biomaterial Database

[Brachmann-Cornelia de Lange syndrome]. 1987

E Bonioli, and C Bellini, and G Ruffa, and G Camera, and G Gemme

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D009958	Orofaciodigital Syndromes	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.	Gorlin-Psaume Syndrome,Mohr Syndrome,Papillon-Leage and Psaume Syndrome,Dysplasia Linguofacialis,Oral-Facial-Digital Syndrome,Oral-Facial-Digital Syndrome, Type I,Oral-Facial-Digital Syndrome, Type II,Oro-Facio-Digital Syndrome,Orodigitofacial Dysostosis,Orodigitofacial Syndrome,Orofaciodigital Syndrome,Orofaciodigital Syndrome I,Orofaciodigital Syndrome II,Gorlin Psaume Syndrome,Oral Facial Digital Syndrome, Type I,Oral Facial Digital Syndrome, Type II,Orofaciodigital Syndrome IIs,Orofaciodigital Syndrome Is,Papillon Leage and Psaume Syndrome,Syndrome, Gorlin-Psaume,Syndrome, Mohr,Syndrome, Orofaciodigital,Syndromes, Orofaciodigital
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002893	Chromosomes, Human, Pair 3	A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.	Chromosome 3
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005138	Eyebrows	Curved rows of HAIR located on the upper edges of the eye sockets.	Eyebrow
D005260	Female		Females