| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Hip dysplasia Beukes type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
6 |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Macrocephaly, short stature, paraplegia syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
8 |
| Parastremmatic dwarfism (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
8 |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Keratosis follicularis, dwarfism, cerebral atrophy syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Schimke immuno-osseous dysplasia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Microspherophakia with metaphyseal dysplasia syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Laron syndrome with immunodeficiency (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Craniolenticulosutural dysplasia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Caudal appendage deafness syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
6 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Short stature locking fingers syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Coxoauricular syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Trigonocephaly, short stature, developmental delay syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Deafness, vitiligo, achalasia syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
6 |
| Stimmler syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Ulna metaphyseal dysplasia syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Microcephalic primordial dwarfism of Toriello type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Rhizomelic dysplasia of Patterson Lowry type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Growth delay due to insulin-like growth factor I resistance (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia type 4 (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 1 (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 5 (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Smith McCort dysplasia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Cataract with aberrant oral frenula and growth delay syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Autosomal dominant brachyolmia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Spondyloepimetaphyseal dysplasia Irapa type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Idiopathic short stature (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Nutritional stunting in infancy (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Nutritional stunting in childhood (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Nutritional stunting in adolescence (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| KBG syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Short stature co-occurrent and due to endocrine disorder (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Spondyloepimetaphyseal dysplasia Isidor type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Richieri Costa-da Silva syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Thoracomelic dysplasia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Subaortic stenosis and short stature syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Short stature due to partial growth hormone receptor deficiency |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
6 |
| Autosomal recessive brachyolmia (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| 21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Autosomal recessive Robinow syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Distal arthrogryposis type 3 (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Osteogenesis imperfecta type 5 (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Congenital generalized hypercontractile muscle stiffness syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
1 |
| Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Oral-facial-digital syndrome with short stature and brachymesophalangia |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
8 |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
1 |
| Microcephalic osteodysplastic primordial dwarfism type II |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Psychosocial short stature (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
2 |
| 46,XX ovarian dysgenesis, short stature syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Coffin-Lowry syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
6 |
| Short stature, developmental delay, congenital heart defect syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Menke Hennekam syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Short stature disorder due to osteosclerosis (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| 1p35.2 microdeletion syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| 9q33.3q34.11 microdeletion syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| 11q22.2q22.3 microdeletion syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |
| Oculocerebrodental syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability, short stature, overweight syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
5 |
| Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
10 |
| Spondyloepimetaphyseal dysplasia with joint laxity Beighton type |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
3 |
| Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) |
Interprets |
True |
Body height (observable entity) |
Inferred relationship |
Some |
4 |