Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Short rib-polydactyly syndrome, Majewski type |
Is a |
Congenital anomaly of rib (disorder) |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
kort costa-dysplasi-gruppen (med eller uden polydaktyli) |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Polydactyly |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Skeletal system structure |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Musculoskeletal structure of limb |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
dysgenese |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Connective tissue (substance) |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure of rib |
true |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Digit structure |
false |
Inferred relationship |
Some |
3 |
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Polydaktyli med neonatal kondrodystrofi, type I |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
kongenit dysplasi |
false |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
Supernumerary structure |
false |
Inferred relationship |
Some |
3 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
kongenit anomali |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure |
false |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
kort costa-dysplasi-gruppen (med eller uden polydaktyli) |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Congenital anomaly of rib (disorder) |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Polydactyly |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure of rib |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
kongenit anomali |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure |
false |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
Supernumerary structure |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
kongenit dysplasi |
false |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Digit structure |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
dysgenese |
false |
Inferred relationship |
Some |
4 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Limb structure |
false |
Inferred relationship |
Some |
4 |
|
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
5 |
|
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
6 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
dysgenese |
false |
Inferred relationship |
Some |
6 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure of rib |
false |
Inferred relationship |
Some |
6 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure |
false |
Inferred relationship |
Some |
5 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
kongenit dysplasi |
false |
Inferred relationship |
Some |
5 |
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Short rib polydactyly syndrome |
true |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
Morphologically abnormal structure |
false |
Inferred relationship |
Some |
3 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
kongenit dysplasi |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
3 |
|
Short rib-polydactyly syndrome, Majewski type |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Digit structure |
true |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure of rib |
false |
Inferred relationship |
Some |
3 |
|
Short rib-polydactyly syndrome, Majewski type |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Finding site |
Bone structure |
false |
Inferred relationship |
Some |
1 |
|
Short rib-polydactyly syndrome, Majewski type |
Pathological process (attribute) |
Pathological developmental process |
false |
Inferred relationship |
Some |
3 |
|
Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
Supernumerary structure |
true |
Inferred relationship |
Some |
2 |
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Hereditary disorder of musculoskeletal system |
false |
Inferred relationship |
Some |
|
|
Short rib-polydactyly syndrome, Majewski type |
Is a |
Autosomal recessive hereditary disorder |
false |
Inferred relationship |
Some |
|
|