WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110879 holoprosencephaly 8 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.

1 Ontology

Name
Disease Ontology

8 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:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:2490 congenital nervous system abnormality  
DOID:4621 holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
DOID:0110879 holoprosencephaly 8 A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4621 DOID:0110879
is_a DOID:225 DOID:0110879
is_a DOID:863 DOID:0110879
is_a DOID:4 DOID:0110879
is_a DOID:2490 DOID:0110879
is_a DOID:0080015 DOID:0110879
is_a DOID:7 DOID:0110879

1 Synonyms

Name Type
HPE8 synonym