Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Witkop syndrome
Synonyms	Tooth and nail syndrome Dysplasia of nails with hypodontia Nail Dysplasia With Hypodontia Tooth-And-Nail Syndrome
ID	http://purl.bioontology.org/ontology/MESH/C536736
altLabel	Tooth and nail syndrome Dysplasia of nails with hypodontia Nail Dysplasia With Hypodontia Tooth-And-Nail Syndrome
cui	C0406735
HM	D009264 D000848
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D000848 http://purl.bioontology.org/ontology/MESH/D009264
MDA	20100825
MeSH Frequency	3
MMR	20120824
notation	C536736
prefLabel	Witkop syndrome
SC	3
Scope Statement	Autosomal dominant disorder characterized by nail dysplasia and congenitally missing permanent teeth; associated with mutations in the MSX1 gene
TERMUI	T740271 T740270 T740272 T801817 T801818
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/400036004	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/142983	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-40142	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X50Hp	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/400036004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/189500	OMIM	CUI
http://www.owl-ontologies.com/unnamed.owl#RID14929	DERMLEX	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536736	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_6678	NATPRO	LOOM
http://purl.bioontology.org/ontology/OMIM/189500	OMIM	LOOM