Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Schwartz-Lelek syndrome
Synonyms	Craniometadiaphyseal dysplasia Craniometaphyseal dysplasia Genetic craniotubular bone dysplasias and hyperostoses
ID	http://purl.bioontology.org/ontology/MESH/C537519
altLabel	Craniometadiaphyseal dysplasia Craniometaphyseal dysplasia Genetic craniotubular bone dysplasias and hyperostoses
cui	C0265292
HM	D019465 D015576 D006972 D001848
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D001848 http://purl.bioontology.org/ontology/MESH/D015576 http://purl.bioontology.org/ontology/MESH/D006972
MDA	20100825
MeSH Frequency	29
MMR	20151110
notation	C537519
prefLabel	Schwartz-Lelek syndrome
SC	3
Scope Statement	A hereditary autosomal recessive disorder characterized by hypertelorism, MACROCEPHALY, dental hypoplasia, and increased bone fragility. OMIM: 269300
TERMUI	T000885100 T742863 T742864 T742865
TH	OMIM (2013) OMIM (2016) GHR (2014) ORD (2010)
tui	T019

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/36601008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A54	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/36601008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/PG5C.	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/278833002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/269300	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/Xa0rU	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/278833002	SCTSPA	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537519	RH-MESH	LOOM