WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060613 X-linked cleft palate with or without ankyloglossia Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.

1 Ontology

Name
Disease Ontology

9 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:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0050567 orofacial cleft A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
DOID:674 cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
DOID:0060613 X-linked cleft palate with or without ankyloglossia A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:674 DOID:0060613
is_a DOID:0050735 DOID:0060613
is_a DOID:630 DOID:0060613
is_a DOID:0050177 DOID:0060613
is_a DOID:225 DOID:0060613
is_a DOID:0080015 DOID:0060613
is_a DOID:0050567 DOID:0060613
is_a DOID:4 DOID:0060613

1 Synonyms

Name Type
X-linked cleft palate and ankyloglossia synonym