WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070039 NESCAV syndrome Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
Paste the following link
Lists
This DiseaseOntology isn't in any lists. Upload a list.

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:1059 intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
DOID:0060307 autosomal dominant intellectual developmental disorder A intellectual disability characterized by an autosomal dominant inheritance pattern.
DOID:0070039 NESCAV syndrome An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.

10 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0060307 DOID:0070039
is_a DOID:0050177 DOID:0070039
is_a DOID:1059 DOID:0070039
is_a DOID:0060037 DOID:0070039
is_a DOID:150 DOID:0070039
is_a DOID:0060038 DOID:0070039
is_a DOID:0050739 DOID:0070039
is_a DOID:4 DOID:0070039
is_a DOID:0050736 DOID:0070039
is_a DOID:630 DOID:0070039

6 Synonyms

Name Type
NESCAVS synonym
neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment synonym
autosomal dominant intellectual disability 9 synonym
autosomal dominant mental retardation 9 synonym
autosomal dominant non-syndromic intellectual disability 9 synonym
MRD9 synonym