| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 1q partial monosomy |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 11q partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 1q partial monosomy |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
|
| 11q partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
|
| 10p partial monosomy syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 12p partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 1p partial monosomy |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 3p partial monosomy syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 7q partial monosomy |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 21q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 10q partial monosomy (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 1q partial monosomy |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 4p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 9p partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 18q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 15q partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 8q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 7p partial monosomy (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Chromosome 1p36 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 4q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 22q partial monosomy (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 18p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 7q partial monosomy |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 16q partial monosomy syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 9q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 5p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 13q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 11q partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 8p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 9q22.3 deletion syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of long arm of chromosome 17 |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 1q21.1 microdeletion |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3. The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
9 |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of chromosome 2 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of short arm of chromosome 2 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of chromosome 3 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 4 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 5 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of long arm of chromosome 5 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of chromosome 6 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of short arm of chromosome 6 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of chromosome 7 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 8 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 9 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 10 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 11 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 13 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 14 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 15 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 16 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of short arm of chromosome 16 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deletion of part of chromosome 17 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 18 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of part of chromosome 19 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deletion of short arm of chromosome 19 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Deletion of part of chromosome 20 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Some |
1 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]