Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Maternal obesity complicating pregnancy, childbirth and the puerperium, antepartum |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Generalized obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Obesity (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Fat pad syndrome |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Central obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Morbid obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Obesity by adipocyte growth pattern (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
5 |
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
obésité selon l'âge d'apparition |
Interprets |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Obesity by contributing factors (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Hyperplastic obesity (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Hypothyroid obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
gain pondéral excessif durant la grossesse |
Interprets |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Drug-induced obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Steatopygia |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Obesity by fat distribution pattern (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Hypothalamic obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Body mass index at or above 95th percentile as compared to children of the same age and sex |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Severe obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Extreme obesity with alveolar hypoventilation |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
Endogenous obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Severe obesity complicating pregnancy |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Adiposogenital dystrophy |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Mauriac's syndrome |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
Hyperinsulinar obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Android obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Constitutional obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Lifelong obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Hypertrophic obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Familial obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Hypogonadal obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
X-linked intellectual disability with precocious puberty and obesity syndrome |
Interprets |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
|
Adult-onset obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Obesity of endocrine origin |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Gynaecoid obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Proopiomelanocortin deficiency causes severe obesity beginning at an early age. Affected individuals also have low levels of adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Hypertrophy of fat pad of knee |
Interprets |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Obesity caused by energy imbalance (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Peripheral obesity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Localised adiposity |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Simple obesity (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
Body weight as reported by individual. |
Is a |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
|
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm count or azoospermia have also been reported. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Hypertrophy of fat pad of right knee (disorder) |
Interprets |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Hypertrophy of fat pad of left knee (disorder) |
Interprets |
False |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Obesity in adolescence (disorder) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Obese class III |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
High body weight (finding) |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
6q16 microdeletion syndrome |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
The actual body weight prior to removal of a limb or part of a limb. |
Is a |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
|
Obesity due to pituitary disease |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behavior problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
6 |
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
5 |
A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
6 |
A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Obesity due to genetic disease. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Childhood obesity due to genetic disease. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Childhood obesity resulting from the interaction of environmental factors and genetic susceptibilities. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Childhood onset obesity associated with a genetic syndrome. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism type I A |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
3 |
Bardet-Biedl syndrome |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
Cohen syndrome |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
2 |
Prader-Willi syndrome |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux. |
Interprets |
True |
Measured body weight (observable entity) |
Inferred relationship |
Some |
4 |