| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.8%) |
1204232 |
The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation. Orye E, Verhaaren H, Van den Bogaert-Van Heesvelde AM. Clin Genet. 1975;8(5):349-57. |
| Micrognathia Prominent forehead Broad thumb Long upper lip | ||
| TMED10 TMED2 | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 13-15 Chromosomes, Human, 6-12 and X Females Homo sapiens Infant | ||
| 2 (66.3%) |
17100198 |
Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl. Chen CP, Lin SP, Lee CC, Town DD, Wang W. Genet Couns. 2006;17(3):301-6. |
| Long philtrum Micrognathia | ||
| Child Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 9 Congenital Hand Deformities Craniofacial Abnormalities Epilepsy Esophageal Achalasia Females Homo sapiens Monosomy Trisomy | ||
| 3 (63.5%) |
2080420 |
A 22-year old female with the 9p deletion syndrome. Ioan D, Dumitriu L, Ghergar D, Pop T, Ioanitiu D, Belengeanu V, Maximilian C. Endocrinologie. 1990;28(1):37-9. |
| Epicanthus Micrognathia | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 9 Eye Abnormalities Females Homo sapiens Intellectual Disability | ||
| 4 (61.8%) |
6846405 |
Brief clinical report: two children with de novo del(9p). Young RS, Bader P, Palmer CG, Kaler SG, Hodes ME. Am J Med Genet. 1983;14(4):751-7. |
| Trigonocephaly Long philtrum Long fingers | ||
| Child Chromosome Deletion Chromosomes, Human, 6-12 and X Congenital Foot Deformity Congenital Hand Deformities Dermatoglyphics Face Females Homo sapiens Intellectual Disability Male Syndrome | ||
| 5 (59.0%) |
25847481 |
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review. El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Du N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. Am J Med Genet A. 2015;167(6):1252-61. |
| Microretrognathia Bulbous nose | ||
| Aneuploidy Child Child, Preschool Chromosome Banding Chromosomes, Human, Pair 9 Developmental Disabilities Females Fetus Genetic Association Studies Genetic Heterogeneity Homo sapiens Intellectual Disability Male Mosaicism Oligonucleotide Array Sequence Analysis Phenotype Syndrome Trisomy | ||
| 5 (59.0%) |
9783713 |
Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. Davies AF, Imaizumi K, Mirza G, Stephens RS, Kuroki Y, Matsuno M, Ragoussis J. J Med Genet. 1998;35(10):857-61. |
| Microretrognathia Frontal bossing | ||
| Chromosome Mapping Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Cleft Palate Craniofacial Abnormalities Face Females Fluorescent in Situ Hybridization Homo sapiens Infant | ||
| 7 (57.8%) |
6737949 |
9p-syndrome: two new observations. Szymanska J, Gutkowska A, Kubalska J, Krajewska-Walasek M, Wisniewski L. Klin Padiatr. 1984;196(2):121. |
| Micrognathia | ||
| Child Chromosome Aberrations Chromosomes, Human, 6-12 and X Females Homo sapiens Infant Intellectual Disability Male | ||
| 8 (57.4%) |
21063078 |
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism. Vasquez-Velasquez AI, Garcia-Castillo HA, Gonzalez-Mercado MG, Davalos IP, Raca G, Xu X, Dwyer E, Rivera H. Cytogenet Genome Res. 2011;132(4):233-8. |
| Microcephaly Long philtrum Preaxial polydactyly | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 9 Craniosynostosis Cri-du-Chat Syndrome Females Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Hypothyroidism Infant Intellectual Disability Male Trisomy | ||
| 9 (55.8%) |
28878839 |
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. Vahabi A, Hazan F, Rad IA. Maedica (Buchar). 2017;12(1):55-58. |
| Trigonocephaly Retrognathia Long philtrum Long eyelashes | ||
| 10 (53.2%) |
3241758 |
[A case of 9p partial monosomy caused by paternal translocation. Clinical and cytogenetic aspects]. Calzolari C, Seracini D, Burgio G, Gaeta G, Pacini M, Giovannucci-Uzielli ML, Mainardi A. Pediatr Med Chir. 1988;10(5):531-4. |
| Trigonocephaly Long fingers | ||
| Chromosome Deletion Chromosomes, Human, Pair 9 Cytogenetics Females Homo sapiens Infant, Newborn |
Total: 58
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000243 | Trigonocephaly | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000465 | Webbed neck | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001816 | Thin nail | Very frequent (99-80%) |
| HP:0002162 | Low posterior hairline | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006610 | Wide intermamillary distance | Very frequent (99-80%) |
| HP:0007477 | Abnormal dermatoglyphics | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
| HP:0009738 | Abnormality of the antihelix | Very frequent (99-80%) |
| HP:0009892 | Anotia | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000574 | Thick eyebrow | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000664 | Synophrys | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0001850 | Abnormality of the tarsal bones | Frequent (79-30%) |
| HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0000074 | Ureteropelvic junction obstruction | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000413 | Atresia of the external auditory canal | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0000925 | Abnormality of the vertebral column | Occasional (29-5%) |
| HP:0001162 | Postaxial hand polydactyly | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001362 | Calvarial skull defect | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0007598 | Bilateral single transverse palmar creases | Occasional (29-5%) |
| HP:0100790 | Hernia | Occasional (29-5%) |
Total: 20
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000243 | Trigonocephaly | 8 |
| HP:0000343 | Long philtrum | 4 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000717 | Autism | 2 |
| HP:0001305 | Dandy-Walker malformation | 2 |
| HP:0012245 | Sex reversal | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000825 | Hyperinsulinemic hypoglycemia | 1 |
| HP:0001022 | Albinism | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0002571 | Achalasia | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0008288 | Nonketotic hyperglycinemia | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|