Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Smith-McCort dysplasia

Definitions

A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. NT MGI.

ID

http://purl.obolibrary.org/obo/DOID_0060247

comment

NT MGI.

created_by

emitraka

creation_date

2015-01-29T15:06:25Z

database_cross_reference

GARD:10620

ORDO:178355

SNOMEDCT_US_2022_09_01:715862006

OMIM:PS607326

MESH:C564589

UMLS_CUI:C1846431

definition

A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.

has_obo_namespace

disease_ontology

id

DOID:0060247

in_subset

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

label

Smith-McCort dysplasia

notation

DOID:0060247

prefLabel

Smith-McCort dysplasia

subClassOf

http://purl.obolibrary.org/obo/DOID_0111167

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http://www.orpha.net/ORDO/Orphanet_178355 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015799 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015799 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C564589 Medical Subject Headings / 医学主题词表 LOOM