WormMine: DiseaseOntology DOID:0111664 ectodermal dysplasia 1 Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.

1 Ontology

• Name: Disease Ontology

9 Parents

Identifier	Name	Description
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:225	syndrome	A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:2121	ectodermal dysplasia	A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
DOID:14793	hypohidrotic ectodermal dysplasia	An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
DOID:0111664	ectodermal dysplasia 1	A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.

8 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0080012	DOID:0111664
is_a	DOID:14793	DOID:0111664
is_a	DOID:0050735	DOID:0111664
is_a	DOID:2121	DOID:0111664
is_a	DOID:630	DOID:0111664
is_a	DOID:225	DOID:0111664
is_a	DOID:4	DOID:0111664
is_a	DOID:0050177	DOID:0111664

11 Synonyms

• Name: Christ-Siemens-Touraine syndrome
• Type: synonym

• Name: CST syndrome
• Type: synonym

• Name: ectodermal dysplasia 1, anhidrotic
• Type: synonym

• Name: ectodermal dysplasia 1, hypohidrotic, X-linked
• Type: synonym

• Name: ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
• Type: synonym

• Name: ED1
• Type: synonym

• Name: HED1
• Type: synonym

• Name: hypohidrotic ectodermal dysplasia, X-Linked
• Type: synonym

• Name: X-linked anhidrotic ectodermal dysplasia
• Type: synonym

• Name: XHED
• Type: synonym

• Name: XLHED
• Type: synonym