| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| DNA instability syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Hereditary disease |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Microcystic renal disease |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE). |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Rare genetic epilepsy with characteristics of mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinaemia, abnormal specific antibody production and impaired T-cell function are observed. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Taurodontism |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable predominantly midline cerebellar hypoplasia. |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Genetic defect of hair shaft (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Genetic disorder of nail (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Rabson-Mendenhall syndrome |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
2 |
| A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE). |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
3 |
| Maternally inherited diabetes and deafness (disorder) |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
1 |
| Diabetes mellitus associated with genetic syndrome |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. |
Due to |
False |
Genetic disease |
Inferred relationship |
Some |
3 |
| Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. |
Due to |
True |
Genetic disease |
Inferred relationship |
Some |
4 |
| Hyperproinsulinaemia |
Associated with |
False |
Genetic disease |
Inferred relationship |
Some |
1 |
| insulinafhængig diabetes mellitus med sekretorisk diarésyndrom |
Associated with |
False |
Genetic disease |
Inferred relationship |
Some |
1 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
Associated with |
False |
Genetic disease |
Inferred relationship |
Some |
3 |
| A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Due to |
False |
Genetic disease |
Inferred relationship |
Some |
4 |
| Impaired glucose tolerance associated with genetic syndrome |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
1 |
| Hemolytic uremic syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Boomerang dysplasia |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Osteoglophonic dysplasia |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Winchester syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Congenital woolly hair |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Williams syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Maffucci syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Klippel-Feil sequence |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Angelman syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Prader-Willi syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Hallermann-Streiff syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Trinucleotide repeat disorder (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner. |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
4 |
| A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Generalized glucocorticoid resistance syndrome (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Male infertility of genetic origin |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Cogan-Reese syndrome (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Genetic lipodystrophy (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Familial hematuria (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Isolated familial renal hypomagnesemia |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
7 |
| Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Associated with |
True |
Genetic disease |
Inferred relationship |
Some |
7 |
| A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Barber-Say syndrome (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Postlingual non-syndromic genetic deafness |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Prelingual non-syndromic genetic deafness (disorder) |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Generalised pustular psoriasis |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Cerebro-costo-mandibular syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Familial multiple lipomata (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Short rib dysplasia |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Familial lambdoid synostosis |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Solitary median maxillary central incisor syndrome |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Acrocephalosyndactyly |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Cloverleaf skull syndrome (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Emery-Dreifuss muscular dystrophy |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Adenocarcinoma of pancreas with neuregulin 1 gene fusion (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Non-small cell lung carcinoma with NRG1 fusion |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Muscular dystrophy |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Malignant tumor of esophagus with NRG1 fusion |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Female infertility due to genetic disease (disorder) |
Due to |
True |
Genetic disease |
Inferred relationship |
Some |
3 |
| The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Cole-Carpenter dysplasia (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. |
Is a |
False |
Genetic disease |
Inferred relationship |
Some |
|
| Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterised by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with striking pterygium, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone trabeculae, cortical thickening of long bones and delayed bone age. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young (disorder) |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
| A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features. |
Is a |
True |
Genetic disease |
Inferred relationship |
Some |
|
FHIR