Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
microsomie partielle |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
hémimélie |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ectromelia |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reduction deformity of upper limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Longitudinal deficiency of lower limb (disorder) |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Longitudinal deficiency of upper limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Micromelia (disorder) |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phocomelia (disorder) |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Partial congenital absence of limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Limb reduction-ichthyosis syndrome |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of paw |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
croissance partielle d'un membre entier |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
membre atrophié |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reduction deformity of unspecified limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of limb NOS |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Amelia of unspecified limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Longitudinal reduction deformity of unspecified limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Other specified reduction deformities of unspecified limb |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Brachymelia NOS |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Other reduction defects of unspecified limb(s) |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reduction deformity of unspecified limb NOS |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ectromelia |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Brachydactyly |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
hémimélie |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Longitudinal deficiency of foot |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Brachydactyly |
Is a |
False |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reduction deformity of lower limb (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reduction deformity of upper limb |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lethal faciocardiomelic dysplasia (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acrorenal mandibular syndrome (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acrofacial dysostosis Rodriguez type (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Limb mammary syndrome |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Distal limb deficiency with micrognathia syndrome |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Jeune thoracic dystrophy (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radio-renal syndrome (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radial deficiency, tibial hypoplasia syndrome |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Femur fibula ulna complex (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inverse Klippel Trénaunay syndrome (disorder) |
Is a |
True |
Longitudinal deficiency of limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|