Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Osteogenesis imperfecta with blue sclerae AND normal teeth |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Craniometadiaphyseal dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Menkes kinky-hair syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Spondyloenchondrodysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Osteodysplasi |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
kort costa-dysplasi-gruppen (med eller uden polydaktyli) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Opsismodysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Knoglekrumningsdysplasi |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Omodysplasi II |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Saldino-Mainzer dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Infantile GM1 gangliosidosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Metachondromatosis (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Dysplasias with significant membranous bone involvement (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Carpal-tarsal osteolysis with nephropathy |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Juvenile idiopathic generalized osteoporosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Diastrophic dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Kniest-Stickler-dysplasigruppe |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Scypho-patellar dysplasia (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Craniometaphyseal dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Rhizomelic chondrodysplasia punctata syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Pseudodiastrophic dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Patella dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Craniometaphyseal dysplasia - mild type |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
3-M syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
Congenital osteodystrophy |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteophyte of bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Hypoplastic chondrodystrophy |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Spheno-frontal dysostosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Kranielt hydromeningocele |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
6 |
Congenital anomaly of bone and joint |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Hyperplastisk kondrodystrofi |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Baller-Gerold syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Fronto-frontal dysostosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Stickler syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Leri-Weill dyschondrosteosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Holoanencephaly (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Kongenit spinalt hydromeningocele |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Furst-Ostrums syndrom |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Weill-Marchesani syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Shwachman syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Maffucci syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Short rib-polydactyly syndrome, Majewski type |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Polydaktyli med neonatal kondrodystrofi, type I |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Stickler syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
7 |
Oculodento-osseous dysplasia - severe type |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
6 |
Stickler syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
6 |
Oculodento-osseous dysplasia - mild type |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
6 |
Achondrogenesis, type IA |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Achondrogenesis, type IB |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Achondrogenesis (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Achondroplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Achondrogenesis, type II |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Acromicric dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Achondroplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Ehlers-Danlos' syndrom, dominant type 4 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos' syndrom, recessiv type 4 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos' syndrom, type 1 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos' syndrom, prokollagenproteinaseresistent |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Familial articular hypermobility syndrome (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos' syndrom, type 2 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Vascular Ehlers-Danlos syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Periodontal Ehlers-Danlos syndrome (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Ehlers-Danlos syndrome, dysfibronectinemic |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos syndrome, hydroxylysine-deficient |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Arthrochalasia Ehlers-Danlos syndrome (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
X-linked Ehlers-Danlos syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Cutis laxa, x-linked |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos' syndrom, dominant type 4 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos' syndrom, recessiv type 4 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos' syndrom, type 1 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos' syndrom, prokollagenproteinaseresistent |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos' syndrom, type 2 |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Vascular Ehlers-Danlos syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Periodontal Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Ehlers-Danlos syndrome, dysfibronectinemic |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos syndrome, hydroxylysine-deficient |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Arthrochalasia Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
X-linked Ehlers-Danlos syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Cutis laxa, x-linked |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Corneafragilitet, keratoglobus, blå sklera og hypermobile led |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Hypermobile Ehlers-Danlos syndrome (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Corneafragilitet, keratoglobus, blå sklera og hypermobile led |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Osteoporosis that results from medical conditions or treatments that interfere with the attainment of peak bone mass, contributing to the structural deterioration of bone tissue. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Tarsal-carpal coalition syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
Bizarre parosteal osteochondromatous proliferation (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Spondyloenchondrodysplasia with immune dysregulation |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
5 |
Bone structure of clavicle and/or scapula and/or humerus (body structure) |
Is a |
False |
Bone structure |
Inferred relationship |
Some |
|
Osteopetrosis |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of skeletal bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Geleophysic dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Salmonella osteomyelitis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
Hanhart's syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |