WormMine: DiseaseOntology DOID:0112261 Leydig cell hypoplasia type II Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.

1 Ontology

• Name: Disease Ontology

12 Parents

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:28	endocrine system disease	A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737	autosomal recessive disease	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:3765	pseudohermaphroditism
DOID:2277	gonadal disease	An endocrine system disease that is located_in the gonads.
DOID:1923	disorder of sexual development	A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
DOID:0112259	Leydig cell hypoplasia	A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
DOID:0112261	Leydig cell hypoplasia type II	A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.

11 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0112259	DOID:0112261
is_a	DOID:1923	DOID:0112261
is_a	DOID:4	DOID:0112261
is_a	DOID:0050177	DOID:0112261
is_a	DOID:0050739	DOID:0112261
is_a	DOID:3765	DOID:0112261
is_a	DOID:7	DOID:0112261
is_a	DOID:28	DOID:0112261
is_a	DOID:630	DOID:0112261
is_a	DOID:0050737	DOID:0112261
is_a	DOID:2277	DOID:0112261

10 Synonyms

• Name: 46,XY disorder of sex development due to partial LH receptor inactivation
• Type: synonym

• Name: 46,XY disorder of sex development due to partial LH resistance
• Type: synonym

• Name: 46,XY disorder of sex development due to partial luteinizing hormone resistance
• Type: synonym

• Name: 46,XY DSD due to partial LH receptor inactivation
• Type: synonym

• Name: 46,XY DSD due to partial LH resistance
• Type: synonym

• Name: 46,XY DSD due to partial luteinizing hormone resistance
• Type: synonym

• Name: Leydig cell hypoplasia due to partial LH receptor inactivation
• Type: synonym

• Name: Leydig cell hypoplasia due to partial LH resistance
• Type: synonym

• Name: Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
• Type: synonym

• Name: Leydig cell hypoplasia due to partial luteinizing hormone resistance
• Type: synonym