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WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.
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1 Ontology

Name
Disease Ontology

15 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:0060564 spinal disease A bone disease that is located_in the spine.
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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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:0080027 spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.

14 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0080027 DOID:0112196
is_a DOID:0050737 DOID:0112196
is_a DOID:0080006 DOID:0112196
is_a DOID:0050177 DOID:0112196
is_a DOID:0060564 DOID:0112196
is_a DOID:65 DOID:0112196
is_a DOID:2256 DOID:0112196
is_a DOID:1222 DOID:0112196
is_a DOID:0050739 DOID:0112196
is_a DOID:0080001 DOID:0112196
is_a DOID:7 DOID:0112196
is_a DOID:4 DOID:0112196
is_a DOID:17 DOID:0112196
is_a DOID:630 DOID:0112196

8 Synonyms

Name Type
SMED-SL/AC synonym
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome synonym
spondylometaepiphyseal dysplasia short limb-hand type synonym
SMED short limb-abnormal calcification type synonym
SMED short limb-hand type synonym
SMED type 2 synonym
SMED, type II synonym
SMED-SL synonym