WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111275 speech-language disorder-1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.

1 Ontology

Name
Disease Ontology

11 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: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:0060037 developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
DOID:150 disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
DOID:2033 communication disorder A specific developmental disorder that involves specific developmental disorders of speech and language.
DOID:92 speech disorder A communication disorder that involves difficulty with the act of speech production.
DOID:0111275 speech-language disorder-1 A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0111275
is_a DOID:92 DOID:0111275
is_a DOID:630 DOID:0111275
is_a DOID:0050739 DOID:0111275
is_a DOID:0050177 DOID:0111275
is_a DOID:0060037 DOID:0111275
is_a DOID:2033 DOID:0111275
is_a DOID:0060038 DOID:0111275
is_a DOID:150 DOID:0111275
is_a DOID:4 DOID:0111275

7 Synonyms

Name Type
developmental apraxia of speech synonym
developmental verbal dyspraxia synonym
speech and language disorder with orofacial dyspraxia synonym
speech-language disorder type 1 synonym
articulatory apraxia synonym
CAS synonym
childhood apraxia of speech synonym