About: Miller syndrome

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Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dystosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the DHODH gene. The incidence of the condition is not known, and nothing is known of its pathogenesis.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:Abstraction100002137 yago:Act100030358 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Event100029378 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Mistake100070965 yago:Nonaccomplishment100066216 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatInbornErrorsOfPurine-pyrimidineMetabolism yago:YagoPermanentlyLocatedEntity disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Miller syndrome (en) Syndroom van Miller (nl)
rdfs:comment	Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dystosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the DHODH gene. The incidence of the condition is not known, and nothing is known of its pathogenesis. (en) Het syndroom van Miller of postaxiale acrofaciale dysostose is een vermoedelijk zeer zeldzaam syndroom waarvan de oorzaak (pathogenese) tot nu toe onbekend is. (nl)
foaf:depiction
dcterms:subject	Syndromes with cleft lip and/or palate Inborn errors of purine-pyrimidine metabolism Rare syndromes Syndromes affecting the eye
Wikipage page ID	25596368 (xsd:integer)
Wikipage revision ID	1078583708 (xsd:integer)
Link from a Wikipage to another Wikipage	Pyrimidine Eyelids Oogenesis Syndromes with cleft lip and/or palate Cleft lip Enzyme Mitochondria Nager acrofacial dysostosis Coloboma Patent ductus arteriosus Treacher Collins syndrome Autosomal recessive Inborn errors of purine-pyrimidine metabolism Drosophila melanogaster Ear Ischium Pubis (bone) Rib Rare syndromes Syndromes affecting the eye Hans-Rudolf Wiedemann Apex beat Femora Supernumerary nipples Tongue Hemidiaphragm Pathogenesis Artery DHODH Infection Micrognathia Human lung Ubiquinone Ventricular septal defect Vertebra Ostium primum atrial septal defect Palate Orotate Dihydroorotate dbr:Malar_hypoplasia dbr:Renal_reflux
sameAs	Miller syndrome Miller syndrome Miller syndrome Miller syndrome Miller syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Inborn_errors_of_purine-pyrimidine_metabolism
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
ICD	Q75.4 (en)
OMIM	263750 (xsd:integer)
Orphanet	246 (xsd:integer)
caption	This condition is inherited in an autosomal recessive manner. (en)
synonyms	Mandibulfacial dysostosis with postaxial limb anomalies (en)
has abstract	Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dystosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the DHODH gene. The incidence of the condition is not known, and nothing is known of its pathogenesis. (en) Het syndroom van Miller of postaxiale acrofaciale dysostose is een vermoedelijk zeer zeldzaam syndroom waarvan de oorzaak (pathogenese) tot nu toe onbekend is. (nl)
gold:hypernym	Condition
prov:wasDerivedFrom	wikipedia-en:Miller_syndrome?oldid=1078583708&ns=0

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