Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

sclerosteosis 1

Synonyms

SOST1

Definitions

A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.

ID

http://purl.obolibrary.org/obo/DOID_0060756

database_cross_reference

ORDO:3152

ICD10CM:M85.2

OMIM:269500

definition

A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.

has exact synonym

SOST1

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0060756

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

sclerosteosis 1

notation

DOID:0060756

prefLabel

sclerosteosis 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_0060251

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http://purl.bioontology.org/ontology/OMIM/269500 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0010016 Mondo Disease Ontology / Mondo疾病本体 LOOM