| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Deletion of part of chromosome 20 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deletion of part of long arm of chromosome 20 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion of part of chromosome 21 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deletion of part of chromosome 22 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deletion of part of long arm of chromosome 3 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deletion of part of short arm of chromosome 17 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion of long arm of chromosome 19 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deletion of part of short arm of chromosome 20 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion of part of long arm of chromosome 6 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deletion of part of chromosome 1 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deletion of part of long arm of chromosome 2 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion of part of long arm of chromosome 12 (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 17q12 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal 16p11.2 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion of part of long arm of chromosome 17 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Atypical Norrie disease due to monosomy Xp11.3 (disorder) |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 12q15q21.1 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal 22q11.2 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal monosomy 9p syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal 17p13.3 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 9p13 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 19p13.13 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 13q syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal chromosome 18q deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal chromosome 18q deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 15q |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 1p31p32 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Monosomy 13q34 syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion 22q11.2 (morphologic abnormality) |
Is a |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 16p12.2 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 5q31.3 microdeletion syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Distal monosomy 14q syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 19p13.3 |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 10q22.3q23.3 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Non-distal monosomy 10q (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Monosomy 13q14 syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal 17p13.1 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 2p21 microdeletion syndrome without cystinuria (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 2p13.2 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 16q24.1 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal 7q11.23 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal 7q11.23 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oculootodental syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oculootodental syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 15q11.2 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 15q11.2 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 14q22q23 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 14q22q23 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 8q22.1 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 12q14 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q11.2 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 20p13 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 9q31.1q31.3 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 14q24.1q24.3 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 3q26q27 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Non-distal monosomy 12q (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 7p syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Monosomie 14q, distale |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 21q22.11q22.12 microdeletion syndrome |
Associated morphology |
False |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal monosomy 4q |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 21q22.11q22.12 microdeletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Williams syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Williams syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Potocki-Shaffer syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 11p partial monosomy syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chromosome 2q37 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q32 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 11p15 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 12q15 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 17q11 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 20p12.2 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 3p25.3 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 5q22.2 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 7p12-p14 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 7p21.1 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 9p24.3 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 9q34 deletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 7p partial monosomy |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 12q24.31-q24.32 deletion syndrome |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 12q15q21.1 microdeletion syndrome (disorder) |
Associated morphology |
True |
Partial monosomy (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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