WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060381 orofaciodigital syndrome XI Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.

1 Ontology

Name
Disease Ontology

4 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:4501 orofaciodigital syndrome A syndrome that is characterized by malformations of the face, oral cavity, and digits.
DOID:0060381 orofaciodigital syndrome XI An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.

3 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4501 DOID:0060381
is_a DOID:225 DOID:0060381
is_a DOID:4 DOID:0060381

0 Synonyms