WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:13501 Moebius syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).

1 Ontology

Name
Disease Ontology

12 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:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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:870 neuropathy A nervous system disease that is located_in nerves or nerve cells.
DOID:5656 cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves.
DOID:1756 facial nerve disease A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
DOID:13501 Moebius syndrome A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:13501
is_a DOID:1756 DOID:13501
is_a DOID:863 DOID:13501
is_a DOID:0050177 DOID:13501
is_a DOID:5656 DOID:13501
is_a DOID:0050739 DOID:13501
is_a DOID:870 DOID:13501
is_a DOID:7 DOID:13501
is_a DOID:630 DOID:13501
is_a DOID:4 DOID:13501
is_a DOID:574 DOID:13501

3 Synonyms

Name Type
Mobius syndrome synonym
Moebius congenital oculofacial paralysis synonym
Oromandibular-limb hypogenesis spectrum synonym