WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081188 autosomal recessive intellectual developmental disorder 14 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.

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: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:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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:0060308 autosomal recessive intellectual developmental disorder A intellectual disability characterized by an autosomal recessive inheritance pattern.
DOID:0081188 autosomal recessive intellectual developmental disorder 14 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060308 DOID:0081188
is_a DOID:630 DOID:0081188
is_a DOID:4 DOID:0081188
is_a DOID:0050737 DOID:0081188
is_a DOID:150 DOID:0081188
is_a DOID:1059 DOID:0081188
is_a DOID:0050739 DOID:0081188
is_a DOID:0060038 DOID:0081188
is_a DOID:0060037 DOID:0081188
is_a DOID:0050177 DOID:0081188

0 Synonyms