WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:2581 chondrodysplasia punctata Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.

1 Ontology

Name
Disease Ontology

5 Parents

Identifier Name Description
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:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:2581 chondrodysplasia punctata A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.

14 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:2581 DOID:0060292
is_a DOID:2581 DOID:0060293
is_a DOID:2581 DOID:0080352
is_a DOID:2581 DOID:0081243
is_a DOID:2581 DOID:0110851
is_a DOID:2581 DOID:0110852
is_a DOID:2581 DOID:0110853
is_a DOID:2581 DOID:0110854
is_a DOID:2581 DOID:0112106
is_a DOID:2581 DOID:2580
is_a DOID:225 DOID:2581
is_a DOID:0050177 DOID:2581
is_a DOID:4 DOID:2581
is_a DOID:630 DOID:2581

1 Synonyms

Name Type
Chondrodysplasia punctata congenita synonym