Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Nijmegen breakage syndrome-like disorder |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple epiphyseal dysplasia Lowry type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Proportionate short stature (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Disproportionate short stature (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Roifman syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Familial infantile gigantism (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Emery Nelson syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ataxia, photosensitivity, short stature syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Gigantism and acromegaly |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nutritional stunting (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pituitary dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked acrogigantism due to Xq26 microduplication |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hypersomatotropic gigantism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypothyroid dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive asexual dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked asexual dwarfism (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Bilateral Madelung deformity |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Autosomal recessive Robinow syndrome |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant Robinow syndrome (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Distal arthrogryposis type 3 (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Osteogenesis imperfecta type 5 (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mesomelic dysplasia of upper limb (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Normal nail growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cardiospondylocarpofacial syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Normal childhood development (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Body height growth rate (observable entity) |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mid parental height (observable entity) |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Short stature disorder due to osteosclerosis (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked agammaglobulinemia with growth hormone deficiency |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalic osteodysplastic primordial dwarfism type II (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Psychosocial short stature (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |