WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0090022 split hand-foot malformation 5 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.

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:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:0090020 split hand-foot malformation A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
DOID:0090022 split hand-foot malformation 5 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0090020 DOID:0090022
is_a DOID:4 DOID:0090022
is_a DOID:17 DOID:0090022
is_a DOID:7 DOID:0090022
is_a DOID:0080001 DOID:0090022
is_a DOID:0080006 DOID:0090022
is_a DOID:65 DOID:0090022

1 Synonyms

Name Type
SHFM5 synonym