Pediatric Terminology

Last uploaded: January 25, 2013
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Preferred Name

Menkes_Kinky-Hair_Syndrome
Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Menkes_Kinky-Hair_Syndrome
ID

C75486
NCI_Definition

An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.
NCI_PT

Menkes Disease
NICHD_Definition

_
prefixIRI

Menkes_Kinky-Hair_Syndrome
prefLabel

Menkes_Kinky-Hair_Syndrome
Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology
SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.540 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7116 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10027293 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.618.590 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/59178007 SNOMEDCT LOOM
http://id.nlm.nih.gov/mesh/D007706 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.455.687 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.618.590 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1838 NATPRO LOOM
http://purl.obolibrary.org/obo/OMIT_0008810 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038502 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.540 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-32110 SNMI LOOM
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.500.687 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15005 DERMLEX LOOM
http://purl.jp/bio/4/id/200906058189154784 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.329.968 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007706 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.520 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_1838 CLO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.540 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.540 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10027292 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.525.687 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D007706 MESH LOOM