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Preferred Name

SCLEROSTEOSIS 1
Synonyms

CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
ID

http://purl.bioontology.org/ontology/OMIM/269500
altLabel

CORTICAL HYPEROSTOSIS WITH SYNDACTYLY

SOST1

SOST
cui

C0265301

C4551483
Gene Locus

17q12-q21
Gene Symbol

VBCH

SOST1

CDD

SOST
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU001173

http://purl.bioontology.org/ontology/OMIM/MTHU009518

http://purl.bioontology.org/ontology/OMIM/MTHU009516

http://purl.bioontology.org/ontology/OMIM/MTHU009525

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU009513

http://purl.bioontology.org/ontology/OMIM/MTHU009528

http://purl.bioontology.org/ontology/OMIM/MTHU009526

http://purl.bioontology.org/ontology/OMIM/MTHU009511

http://purl.bioontology.org/ontology/OMIM/MTHU009515

http://purl.bioontology.org/ontology/OMIM/MTHU009523

http://purl.bioontology.org/ontology/OMIM/MTHU009521

http://purl.bioontology.org/ontology/OMIM/MTHU009531

http://purl.bioontology.org/ontology/OMIM/MTHU037508

http://purl.bioontology.org/ontology/OMIM/MTHU005092

http://purl.bioontology.org/ontology/OMIM/MTHU006871

http://purl.bioontology.org/ontology/OMIM/MTHU009514

http://purl.bioontology.org/ontology/OMIM/MTHU009519

http://purl.bioontology.org/ontology/OMIM/MTHU009517

http://purl.bioontology.org/ontology/OMIM/MTHU009510

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU009522

http://purl.bioontology.org/ontology/OMIM/MTHU009524

http://purl.bioontology.org/ontology/OMIM/MTHU002903

http://purl.bioontology.org/ontology/OMIM/MTHU009529

http://purl.bioontology.org/ontology/OMIM/MTHU009512

http://purl.bioontology.org/ontology/OMIM/MTHU009527

http://purl.bioontology.org/ontology/OMIM/MTHU032019

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU009532

http://purl.bioontology.org/ontology/OMIM/MTHU009530
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

269500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SCLEROSTEOSIS 1
Scope Statement

Majority of cases in the Afrikaner population of South Africa [MISCELLANEOUS]

Sudden death secondary to impaction of medulla oblongata [MISCELLANEOUS]

Facial palsy often transient in infancy [MISCELLANEOUS]

Caused by mutations in the sclerostin gene (SOST, 605740.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537525 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/MONDO_0010016 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0060756 Human Disease Ontology / 人类疾病本体 LOOM