WormMine: DiseaseOntology DOID:0110152 Charcot-Marie-Tooth disease type 1B Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

1 Ontology

• Name: Disease Ontology

14 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:863	nervous system disease	A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:574	peripheral nervous system disease	A nervous system disease that affects the peripheral nervous system.
DOID:17	musculoskeletal system disease	A disease of anatomical entity that occurs in the muscular and/or skeletal system.
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:0050736	autosomal dominant disease	An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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:870	neuropathy	A nervous system disease that is located_in nerves or nerve cells.
DOID:440	neuromuscular disease	A neuropathy that affect the nerves that control the voluntary muscles.
DOID:10595	Charcot-Marie-Tooth disease	A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
DOID:0050538	Charcot-Marie-Tooth disease type 1	A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
DOID:0110152	Charcot-Marie-Tooth disease type 1B	A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

13 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050538	DOID:0110152
is_a	DOID:0050736	DOID:0110152
is_a	DOID:870	DOID:0110152
is_a	DOID:440	DOID:0110152
is_a	DOID:0050739	DOID:0110152
is_a	DOID:0050177	DOID:0110152
is_a	DOID:10595	DOID:0110152
is_a	DOID:7	DOID:0110152
is_a	DOID:863	DOID:0110152
is_a	DOID:630	DOID:0110152
is_a	DOID:17	DOID:0110152
is_a	DOID:4	DOID:0110152
is_a	DOID:574	DOID:0110152

8 Synonyms

• Name: CMT1B
• Type: synonym

• Name: hereditary motor and sensory neuropathy IB
• Type: synonym

• Name: HMSN IB
• Type: synonym

• Name: HMSN1B
• Type: synonym

• Name: peroneal muscular atrophy
• Type: synonym

• Name: autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
• Type: synonym

• Name: Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
• Type: synonym

• Name: Charcot-Marie-Tooth neuropathy type 1B
• Type: synonym