Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

syndromic X-linked intellectual disability Snyder type

Synonyms

Snyder-Robinson syndrome

SRS

Snyder-Robinson mental retardation syndrome

spermine synthase deficiency

mental retardation, X-linked, Snyder-Robinson type

Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0060802

database_cross_reference

ORDO:3063

ICD10CM:Q87.8

OMIM:309583

definition

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.

has_exact_synonym

Snyder-Robinson syndrome

SRS

Snyder-Robinson mental retardation syndrome

spermine synthase deficiency

mental retardation, X-linked, Snyder-Robinson type

has_obo_namespace

disease_ontology

id

DOID:0060802

label

syndromic X-linked intellectual disability Snyder type

notation

DOID:0060802

prefLabel

syndromic X-linked intellectual disability Snyder type

treeView

http://purl.obolibrary.org/obo/DOID_0060309

subClassOf

http://purl.obolibrary.org/obo/DOID_0060309

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http://purl.obolibrary.org/obo/MONDO_0010664 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010664 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0060802 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060802 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060802 NIFSTD SAME_URI