WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060826 syndromic X-linked intellectual disability Shashi type Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.

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: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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0060309 syndromic X-linked intellectual disability A syndromic intellectual disability characterized by an X-linked inheritance pattern.
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:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
DOID:0060826 syndromic X-linked intellectual disability Shashi type A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060309 DOID:0060826
is_a DOID:1059 DOID:0060826
is_a DOID:630 DOID:0060826
is_a DOID:0050735 DOID:0060826
is_a DOID:4 DOID:0060826
is_a DOID:0050888 DOID:0060826
is_a DOID:0050177 DOID:0060826
is_a DOID:0060038 DOID:0060826
is_a DOID:0060037 DOID:0060826
is_a DOID:150 DOID:0060826

6 Synonyms

Name Type
syndromic X-linked intellectual disability type 11 synonym
X-linked mental retardation Shashi type synonym
mental retardation, X-linked, syndromic 11, Shashi type synonym
MRXS11 synonym
Shashi X-linked mental retardation syndrome synonym
SMRXS synonym