Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Dyschondrosteosis and nephritis syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Cutaneous mastocytosis, short stature, hearing loss syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
8 |
Microcephalic osteodysplastic dysplasia Saul Wilson type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Keratosis follicularis, dwarfism, cerebral atrophy syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Schimke immuno-osseous dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Microspherophakia with metaphyseal dysplasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Laron syndrome with immunodeficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Craniolenticulosutural dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Carbohydrate sulfotransferase 3 related skeletal dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Caudal appendage deafness syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Short stature locking fingers syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Coxoauricular syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Hydrocephalus, tall stature, joint laxity syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Trigonocephaly, short stature, developmental delay syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Deafness, vitiligo, achalasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Ulna metaphyseal dysplasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Skeletal dysplasia with epilepsy and short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Mesomelic dysplasia of hypoplastic ulna and fibula type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic primordial dwarfism of Toriello type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Growth delay due to insulin-like growth factor I resistance |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Mesomelic dysplasia Savarirayan type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Multiple epiphyseal dysplasia type 4 |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Multiple epiphyseal dysplasia type 1 |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Multiple epiphyseal dysplasia type 5 |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Smith McCort dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Cataract with aberrant oral frenula and growth delay syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Goniodysgenesis with intellectual disability and short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature with craniofacial anomalies and genital hypoplasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability and short stature with hand contracture and genital anomaly syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant brachyolmia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloepimetaphyseal dysplasia Irapa type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Idiopathic short stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Nutritional stunting in infancy |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Nutritional stunting in childhood |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Nutritional stunting in adolescence |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature co-occurrent and due to endocrine disorder |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Spondyloepimetaphyseal dysplasia Isidor type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Brachydactyly, short stature, retinitis pigmentosa syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Richieri Costa-da Silva syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Thoracic dysplasia and hydrocephalus syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Thoracomelic dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Subaortic stenosis and short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature due to partial growth hormone receptor deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Reunion Island Larsen-like syndrome |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Autosomal recessive brachyolmia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Myhre syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Spondyloepiphyseal dysplasia with congenital joint dislocations |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Warsaw breakage syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Ear, patella, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloenchondrodysplasia with immune dysregulation |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism Alazami type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic primordial dwarfism Dauber type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked spondyloepimetaphyseal dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Metaphyseal chondrodysplasia Kaitila type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Rhizomelic syndrome Urbach type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, short stature, hypertelorism syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Pseudoleprechaunism syndrome Patterson type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Cleft palate, large ears, small head syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Craniofaciofrontodigital syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Velofacioskeletal syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Wiedemann Steiner syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, wormian bones, dextrocardia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Oculomaxillofacial dysostosis |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Short stature homeobox related short stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Spondyloepimetaphyseal dysplasia Handigodu type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature with delayed bone age due to thyroid hormone metabolism deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Spondyloepimetaphyseal dysplasia anauxetic type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
2 |
Colobomatous microphthalmia, rhizomelic dysplasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Larsen-like osseous dysplasia, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
9 |
Dyssegmental dysplasia Silverman Handmaker type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism Montreal type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
6 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Multiple epiphyseal dysplasia with miniepiphyses |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |
Nijmegen breakage syndrome-like disorder |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Existential restriction modifier |
3 |