About: EEM syndrome

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: EEM syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org associated with source document(s)
QRcode icon

http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FEEM_syndrome&graph=http%3A%2F%2Fdbpedia.org&graph=http%3A%2F%2Fdbpedia.org

EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessive congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	EEM syndrome (en) EEM-Syndrom (de)
rdfs:comment	Das EEM-Syndrom, Akronym für Ektodermaler Dysplasie, Ektrodaktylie und Makuladegeneration, ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Fehlbildungen aus dem äußeren Keimblatt, von Spalthand oder Spaltfuß und Sehverlust durch Makuladegeneration. Die Erstbeschreibung stammt aus dem Jahre 1983 durch die japanischen Kinderärzte Shozo Ohdo, Kiyotake Hirayama und Tamotsu Terawaki. (de) EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessive congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes. (en)
foaf:name	EEM syndrome (en)
name	EEM syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare syndromes
Wikipage page ID	17517860 (xsd:integer)
Wikipage revision ID	1013724136 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Hypodontia CDH3 (gene) Inheritance Integumentary system Alopecia Nail (anatomy) Gene Autosomal recessive disorders Macular degeneration Symptom Systemic disease Autosomal recessive Hay-Wells syndrome Chromosome Chromosome 16 Chromosome 3 Germ layer Hand Tooth Transcription factor Rare syndromes Hair Hypotrichosis Syndactyly Ectoderm Ectodermal dysplasia Ectrodactyly Tissue (biology) Autosome Human eye Human skin Recessive gene Congenital TP73L
sameAs	EEM syndrome EEM syndrome EEM syndrome EEM syndrome EEM syndrome EEM syndrome
SNOMED CT	720856002 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Congenital_malformations_and_deformations_of_integument
thumbnail	wiki-commons:Special:FilePath/Autorecessive.svg?width=300
ICD	757.310000 (xsd:double) (en) Q82.4 (en)
OMIM	225280 (xsd:integer)
Orphanet	1897 (xsd:integer)
caption	EEM syndrome has an autosomal recessive pattern of inheritance. (en)
has abstract	Das EEM-Syndrom, Akronym für Ektodermaler Dysplasie, Ektrodaktylie und Makuladegeneration, ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Fehlbildungen aus dem äußeren Keimblatt, von Spalthand oder Spaltfuß und Sehverlust durch Makuladegeneration. Die Erstbeschreibung stammt aus dem Jahre 1983 durch die japanischen Kinderärzte Shozo Ohdo, Kiyotake Hirayama und Tamotsu Terawaki. (de) EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessive congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes. (en)
gold:hypernym	Disorder
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
ICD9	757.31
prov:wasDerivedFrom	wikipedia-en:EEM_syndrome?oldid=1013724136&ns=0
page length (characters) of wiki page	5607 (xsd:nonNegativeInteger)
ICD10	Q82.4
OMIM id	225280 (xsd:integer)
ORPHA	1897

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (62 GB total memory, 46 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software