WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060799 syndromic X-linked intellectual disability Lubs type Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
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1 Ontology

Name
Disease Ontology

13 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:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
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:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
DOID:0060799 syndromic X-linked intellectual disability Lubs type A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.

12 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0060429 DOID:0060799
is_a DOID:0060309 DOID:0060799
is_a DOID:630 DOID:0060799
is_a DOID:0060037 DOID:0060799
is_a DOID:1059 DOID:0060799
is_a DOID:0050177 DOID:0060799
is_a DOID:0080014 DOID:0060799
is_a DOID:150 DOID:0060799
is_a DOID:0060038 DOID:0060799
is_a DOID:0050735 DOID:0060799
is_a DOID:0050888 DOID:0060799
is_a DOID:4 DOID:0060799

7 Synonyms

Name Type
Lubs X-linked mental retardation syndrome synonym
MECP2 duplication syndrome synonym
mental retardation, X-linked, syndromic, Lubs type synonym
mental retardation, X-linked, with recurrent respiratory infections synonym
MRXSL synonym
X-linked intellectual disability-hypotonia-recurrent Infections syndrome synonym
DOID:0080713 alt_id