Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Nijmegen breakage syndrome-like disorder |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature due to growth hormone secretagogue receptor deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Severe lateral tibial bowing with short stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Cono-spondylar dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Tall stature, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Multiple epiphyseal dysplasia Lowry type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Proportionate short stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Disproportionate short stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Spondyloepimetaphyseal dysplasia Genevieve type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Roifman syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Familial infantile gigantism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
7 |
Spondylo-megaepiphyseal-metaphyseal dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Emery Nelson syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Ataxia, photosensitivity, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Gigantism and acromegaly |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Nutritional stunting |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Pituitary dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked acrogigantism due to Xq26 microduplication |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Hypersomatotropic gigantism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Hypothyroid dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive asexual dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked asexual dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Bilateral Madelung deformity |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
8 |
Autosomal recessive Robinow syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Autosomal dominant Robinow syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Distal arthrogryposis type 3 |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Osteogenesis imperfecta type 5 |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Mesomelic dysplasia of upper limb |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Normal nail growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Cardiospondylocarpofacial syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Normal childhood development |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
1 |
Body height growth rate |
Is a |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|
Mid parental height |
Is a |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|
Short stature disorder due to osteosclerosis |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked agammaglobulinemia with growth hormone deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic osteodysplastic primordial dwarfism type II |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Psychosocial short stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Physical growth is cause for concern |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|
On examination - height NOS |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|
Inadequate growth rate |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
1 |
Faltering growth rate |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
1 |
Physical growth is cause for concern |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
1 |
Faltering growth rate |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|
Inadequate growth rate |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|
Excessive growth rate |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
|