| 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 |