| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of spine (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of right foot (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of left foot (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of right lower leg (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of left lower leg |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Eye defects, arachnodactyly, cardiopathy syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare bone disease and a form of microcephalic primordial dwarfism characterised by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Bilateral congenital dysplasia of upper limbs |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Bilateral congenital dysplasia of upper limbs |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of right upper limb (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of left upper limb (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Presence of dysplasia at surgical margin of excised tissue specimen (observable entity) |
Component |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Presence of dysplasia at surgical margin in colectomy specimen (observable entity) |
Component |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Surgical margin involved by dysplasia in excised tissue specimen (observable entity) |
This attribute is used to specify the denominator of a relational property type, such as a ratio or proportion. |
False |
Dysplasia |
Inferred relationship |
Some |
5 |
| A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
| A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
| Leri-Weill dyschondrosteosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Leri-Weill dyschondrosteosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
4 |
| Leri-Weill dyschondrosteosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
5 |
| Leri-Weill dyschondrosteosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
6 |
| Leri-Weill dyschondrosteosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
7 |
| Mesomelic dysplasia of lower limb |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Mesomelic dysplasia of upper limb (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Mesomelic dysplasia of lower limb |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
5 |
| syndrome de dyschondrostéose - néphropathie |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
4 |
| syndrome de dyschondrostéose - néphropathie |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
5 |
| Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Benign mammary dysplasia of bilateral breasts (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Benign mammary dysplasia of bilateral breasts (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
4 |
| A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of limb (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of left lower limb |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of right lower limb (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of bilateral lower limbs (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of bilateral lower limbs (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of lower limb (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital glenoid dysplasia of left scapula (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital glenoid dysplasia of right scapula (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital glenoid dysplasia of bilateral scapulae (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Congenital glenoid dysplasia of bilateral scapulae (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
| Melorheostosis of left humerus (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of right humerus |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of humerus (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of femur (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of left femur (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of right femur |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of bilateral femurs (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
| Melorheostosis of bilateral femurs (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]