WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.

1 Ontology

Name
Disease Ontology

10 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:2256 osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone.
DOID:1222 cartilage disease A connective tissue disease that is located_in cartilage.
DOID:0112295 spondylometaphyseal dysplasia An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.
DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0112295 DOID:0112305
is_a DOID:17 DOID:0112305
is_a DOID:0080001 DOID:0112305
is_a DOID:2256 DOID:0112305
is_a DOID:1222 DOID:0112305
is_a DOID:7 DOID:0112305
is_a DOID:4 DOID:0112305
is_a DOID:65 DOID:0112305
is_a DOID:0080006 DOID:0112305

2 Synonyms

Name Type
SMD with bowed forearms and facial dysmorphism synonym
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome synonym