Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Lacazia	NCBITaxon_121739
spermatogenic failure 11	DOID_0070180	[A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21.]
male infertility	DOID_12336
Y-linked spermatogenic failure 2	DOID_0070187	[A male infertility characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region.]
Y-linked monogenic disease	DOID_0050738	[A monogenic disease that has_material_basis_in muations on the Y chromosome.]
Y-linked inheritance	GENO_0000941	[An inheritance pattern wherein the trait is determined by alleles of a single causal gene on a Y-chromosome.]
spermatogenic failure 1	DOID_0070188	[A male infertility characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.]
X-linked spermatogenic failure 2	DOID_0070185	[An azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.]
azoospermia	DOID_14227	[A male infertility disease characterized by the absence of any measurable level of sperm in semen.]
Y-linked spermatogenic failure 1	DOID_0070186	[A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region.]
Sertoli cell-only syndrome	DOID_0050457	[A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.]
spermatogenic failure 5	DOID_0070183	[A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.]
spermatogenic failure 16	DOID_0070184	[A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11.]
spermatogenic failure 23	DOID_0070181	[An azoospermia characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23.]
spermatogenic failure 13	DOID_0070182	[A male infertility characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11.]
X-linked spermatogenic failure 1	DOID_0070189	[A Sertoli cell-only syndrome characterized by X-linked inheritance.]
autosomal dominant chronic granulomatous disease	DOID_0070190	[A chronic granulomatous disease characterized by autosomal dominant inheritance.]
autosomal recessive chronic granulomatous disease cytochrome b-positive type II	DOID_0070191	[A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.]
Miyoshi muscular dystrophy	DOID_0070198	[A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.]
distal myopathy	DOID_11720	[A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.]