WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060886 osteopathia striata with cranial sclerosis Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.

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:0080005 bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone.
DOID:4254 osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass.
DOID:0060886 osteopathia striata with cranial sclerosis An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:4254 DOID:0060886
is_a DOID:0080005 DOID:0060886
is_a DOID:65 DOID:0060886
is_a DOID:0080001 DOID:0060886
is_a DOID:7 DOID:0060886
is_a DOID:17 DOID:0060886
is_a DOID:4 DOID:0060886

2 Synonyms

Name Type
hyperostosis generalisata with striations synonym
Robinow-Unger syndrome synonym