WormMine: DiseaseOntology DOID:0060875 isolated growth hormone deficiency type III Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.

1 Ontology

• Name: Disease Ontology

11 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:0050735	X-linked monogenic disease	A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0080012	X-linked recessive disease	A X-linked monogenic disease that has_material_basis_in recessive inheritance.
DOID:9406	hypopituitarism	A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
DOID:0060870	isolated growth hormone deficiency	A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
DOID:53	pituitary gland disease	An endocrine system disease that is located_in the pituitary gland.
DOID:0060875	isolated growth hormone deficiency type III	An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.

10 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0060870	DOID:0060875
is_a	DOID:0080012	DOID:0060875
is_a	DOID:9406	DOID:0060875
is_a	DOID:53	DOID:0060875
is_a	DOID:0050177	DOID:0060875
is_a	DOID:7	DOID:0060875
is_a	DOID:630	DOID:0060875
is_a	DOID:0050735	DOID:0060875
is_a	DOID:28	DOID:0060875
is_a	DOID:4	DOID:0060875

10 Synonyms

• Name: congenital IGHD type III
• Type: synonym

• Name: congenital isolated GH deficiency type III
• Type: synonym

• Name: congenital isolated growth hormone deficiency type III
• Type: synonym

• Name: Fleisher syndrome
• Type: synonym

• Name: growth hormone deficiency with hypogammaglobulinemia
• Type: synonym

• Name: IGHD III
• Type: synonym

• Name: X-linked agammaglobulinemia and isolated growth hormone deficiency
• Type: synonym

• Name: X-linked hypogammaglobulinemia and isolated growth hormone deficiency
• Type: synonym

• Name: X-linked IGHD
• Type: synonym

• Name: X-linked isolated growth hormone deficiency
• Type: synonym