| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 4p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 8p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 7p partial monosomy (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 12p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 1p partial monosomy |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 11p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 18p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 10p partial monosomy syndrome (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 9p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 5p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 9p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| 10p partial monosomy syndrome (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
|
| A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 10p partial monosomy syndrome (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 12p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 1p partial monosomy |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 3p partial monosomy syndrome (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 4p partial monosomy syndrome |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 9p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 7p partial monosomy (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 18p partial monosomy syndrome |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 5p partial monosomy syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 8p partial monosomy syndrome |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 9q22.3 deletion syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
8 |
| Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Deletion of part of short arm of chromosome 2 (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Deletion of part of short arm of chromosome 6 (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Deletion of part of short arm of chromosome 16 (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Deletion of short arm of chromosome 19 (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Deletion of part of short arm of chromosome 17 (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Deletion of part of short arm of chromosome 20 (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
6 |
| Chromosome 1p36 deletion syndrome (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
1 |
| Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 11p partial monosomy syndrome |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 11p15 deletion syndrome |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 20p12.2 deletion syndrome (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 7p12-p14 deletion syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 7p21.1 deletion syndrome |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 9p24.3 deletion syndrome (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| 7p partial monosomy (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Distal deletion of short arm of chromosome 1 (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Distal deletion of short arm of chromosome 3 (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Distal deletion of short arm of chromosome 8 (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Medial deletion of short arm of chromosome 1 |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Medial deletion of short arm of chromosome 1 |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Deletion of short arm of chromosome 18 |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Proximal deletion of short arm of chromosome 8 (disorder) |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Proximal deletion of short arm of chromosome 6 |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Proximal deletion of short arm of chromosome 1 |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Proximal deletion of short arm of chromosome 3 |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
3 |
| Proximal deletion of short arm of chromosome 9 |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| Proximal deletion of short arm of chromosome 7 (disorder) |
Associated morphology |
False |
Deletion of short arm |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. |
Associated morphology |
True |
Deletion of short arm |
Inferred relationship |
Some |
4 |
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