WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060802 syndromic X-linked intellectual disability Snyder type Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.

1 Ontology

Name
Disease Ontology

12 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:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance.
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:0060802 syndromic X-linked intellectual disability Snyder type A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080012 DOID:0060802
is_a DOID:0060309 DOID:0060802
is_a DOID:630 DOID:0060802
is_a DOID:0050177 DOID:0060802
is_a DOID:1059 DOID:0060802
is_a DOID:0050888 DOID:0060802
is_a DOID:0060038 DOID:0060802
is_a DOID:0060037 DOID:0060802
is_a DOID:0050735 DOID:0060802
is_a DOID:4 DOID:0060802
is_a DOID:150 DOID:0060802

5 Synonyms

Name Type
mental retardation, X-linked, Snyder-Robinson type synonym
Snyder-Robinson mental retardation syndrome synonym
Snyder-Robinson syndrome synonym
spermine synthase deficiency synonym
SRS synonym