GenotypicSex.txt

value	description	codesystem	code	iri
XX Genotype	The normal genotype of a female human.	NCIT	C45976	http://purl.obolibrary.org/obo/NCIT_C45976
XY Genotype	The normal genotype of a male human.	NCIT	C45977	http://purl.obolibrary.org/obo/NCIT_C45977
45,XO Karyotype	An abnormal sex chromosome karyotype where the individual is missing either a second X chromosome or the Y chromosome. The normal autosomal karyotype is present. This karyotype is associated with Turner Syndrome.	NCIT	C176780	http://purl.obolibrary.org/obo/NCIT_C176780
45,XO with Y Chromosomal Material	An abnormal sex chromosome karyotype where the individual is missing a second X chromosome and has some chromosomal material from the Y chromosome. The normal autosomal karyotype is present.	NCIT	C176781	http://purl.obolibrary.org/obo/NCIT_C176781
47,XXX Karyotype	An abnormal sex chromosome karyotype where the individual has three copies of the X chromosome. The normal autosomal karyotype is present. This karyotype is associated with triple X syndrome.	NCIT	C176785	http://purl.obolibrary.org/obo/NCIT_C176785
47,XXY Karyotype	An abnormal sex chromosome karyotype where the individual has two copies of the X chromosome and one copy of the Y chromosome. The normal autosomal karyotype is present. This karyotype is associated with Klinefelter syndrome.	NCIT	C176784	http://purl.obolibrary.org/obo/NCIT_C176784
47,XYY Karyotype	An abnormal sex chromosome karyotype where the individual has one X chromosome and has two copies of the Y chromosome. The normal autosomal karyotype is present.	NCIT	C176782	http://purl.obolibrary.org/obo/NCIT_C176782
48,XXXX Karyotype	An abnormal sex chromosome karyotype where the individual has four copies of the X chromosome. The normal autosomal karyotype is present.	NCIT	C176787	http://purl.obolibrary.org/obo/NCIT_C176787
48,XXXY Karyotype	An abnormal sex chromosome karyotype where the individual has three copies of the X chromosome and one copy of the Y chromosome. The normal autosomal karyotype is present.	NCIT	C176786	http://purl.obolibrary.org/obo/NCIT_C176786
XXYY Syndrome	A rare sex chromosome abnormality in which a male child has an extra X and Y chromosome.	NCIT	C89801	http://purl.obolibrary.org/obo/NCIT_C89801
Penta X Syndrome	A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes.	NCIT	C89802	http://purl.obolibrary.org/obo/NCIT_C89802
XXXXY Syndrome	Rare syndrome caused by chromosomal defects and characterized by the presence of multiple X chromosomes and one Y chromosome. Signs and symptoms include short stature, mental retardation, hypogonadism, undescended testes, gynecomastia, and hypotonia.	NCIT	C85236	http://purl.obolibrary.org/obo/NCIT_C85236