Human Disease Ontology

Last uploaded: June 28, 2024
Preferred Name

Blount's disease

Synonyms

Blount disease

familial infantile type osteochondrosis deformans tibiae

Definitions

An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_14798

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2023_03_01:880067009

UMLS_CUI:C0220757

GARD:916

MIM:188700

MIM:259200

definition

An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.

has exact synonym

Blount disease

familial infantile type osteochondrosis deformans tibiae

has_obo_namespace

disease_ontology

id

DOID:14798

in_subset

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

label

Blount's disease

notation

DOID:14798

prefLabel

Blount's disease

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

Delete Subject Author Type Created
No notes to display