| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic primary bone dysplasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Pyknodysostosis |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| dysostose périphérique |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cystinuria, type 1 |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Stewart-Morel-Morgagni syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the mid phalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Leigh-Syndrom mit nephrotischem Syndrom |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hereditary progressive muscular dystrophy |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Osteopetrosis |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Osteosclerosis |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Reunion Island Larsen-like syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Triphalangeal thumb and polysyndactyly syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| X-linked dominant chondrodysplasia punctata of Happle |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Lethal multiple pterygium syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Genetically determined myasthenia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Amyotonia congenita |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hereditary acroosteolysis (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Inherited spastic paresis |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Dysplasia epiphysealis hemimelica |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Metachondromatosis |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Schwartz-Jampel syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Pseudodiastrophic dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Brachyolmia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Saldino-Mainzer dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Desbuquois syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Francois syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Blomstrand dysplasia (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Jarcho-Levin syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Larsen syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Seckel syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Diastrophic dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cutis laxa, x-linked |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| syndrome de Cayler |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Desmosterolosis (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
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