| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
| 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). |
Associated morphology |
True |
Morphologically abnormal structure |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Persistent cloaca (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Congenital prepapillary vascular loop |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Twin monochorionic monoamniotic placenta |
Associated morphology |
True |
Morphologically abnormal structure |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
| A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital isolated onychodysplasia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Laparoscopic anorectoplasty (procedure) |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Laparoscopic anorectoplasty (procedure) |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Ebstein's anomaly of common atrioventricular valve |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Common atrioventricular valve prolapse |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital multi-minicore disease with external ophthalmoplegia (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Kartagener syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
6 |
| A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| 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 |
Morphologically abnormal structure |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Autosomal recessive Robinow syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
7 |
| The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
7 |
| Autosomal recessive Robinow syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
6 |
| Fetal trimethadione syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The aetiology remains unclear and is likely multifactorial. Familial cases have been described. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Marden Walker syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Usher syndrome type 1F (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Sabinas brittle hair syndrome (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Onycho-tricho-dysplasia neutropenia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Congenital anomaly of left fallopian tube |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of right fallopian tube (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
| A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Abnormality of cervix uteri affecting pregnancy (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| Repair of atrioventricular septal defect with common valve orifice |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Repair of atrioventricular septal defect with common valve orifice |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Patching of defect of atrioventricular valve leaflet |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
| A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Congenital anomaly of left renal vein (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of right renal vein (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of renal vein (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| 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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
| Congenital anomaly of blood vessels of bilateral lower limbs (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of blood vessels of bilateral lower limbs (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Bilateral congenital anomaly of blood vessels of upper limbs |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Bilateral congenital anomaly of blood vessels of upper limbs |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Congenital anomaly of bilateral renal veins (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of bilateral renal veins (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Congenital anomaly of ossicle of right ear |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of ossicle of left ear |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of ossicles of bilateral ears (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital anomaly of ossicles of bilateral ears (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
| Acquired abnormality of uterus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital deformity of bilateral calcanea (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
| Congenital deformity of bilateral calcanea (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]