| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
6425984 |
Clinical aspects, diagnosis, and treatment of the Kaufman syndrome (hydrocolpos, hypospadias, polydactyly). Hofmann U, Dopfer R, Reifferscheid P. Prog Pediatr Surg. 1984;17:71-8. |
| Micrognathia | ||
| Congenital Heart Defects Females Fingers Homo sapiens Hypospadias Infant, Newborn Male Syndrome Toes Urethra Urography Vagina | ||
| 2 (57.3%) |
18568997 |
Fraser syndrome: a new case report with review of the literature. Eskander BS, Shehata BM. Fetal Pediatr Pathol. 2008;27(2):99-104. |
| Cryptophthalmos Syndactyly | ||
| Bardet-Biedl Syndrome Differential Diagnosis Eye Abnormalities Fatal Outcome Females Homo sapiens Infant, Newborn Syndactyly | ||
| 3 (54.4%) |
6829602 |
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C. Am J Med Genet. 1983;14(1):139-47. |
| Brachycephaly Choanal stenosis Slender finger | ||
| Congenital Heart Defects Craniosynostosis Face Females Genes, Recessive Homo sapiens Infant, Newborn Kidney Pregnancy Syndrome Ultrasonography | ||
| 4 (53.0%) |
1805430 |
Limb reduction defects in humans associated with prenatal isotretinoin exposure. Rizzo R, Lammer EJ, Parano E, Pavone L, Argyle JC. Teratology. 1991;44(6):599-604. |
| Hydrocephalus Short sternum Short humerus Absent thumb | ||
| Abnormalities, Drug-Induced Females Fetus Homo sapiens Hydrocephalus Infant, Newborn Kidney Limb Deformities, Congenital Male Maternal-Fetal Exchange Pregnancy Ultrasonography, Prenatal | ||
| 5 (49.1%) |
18525474 |
Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect. Su WR, Wang PH, Lian JD, Lin MC. J Pediatr Orthop B. 2008;17(4):179-82. |
| Lobulated tongue Polydactyly | ||
| Congenital Heart Defects Differential Diagnosis Females Follow-Up Studies Homo sapiens Hydronephrosis Infant, Newborn Magnetic Resonance Imaging Orofaciodigital Syndromes Reconstructive Surgical Procedures Vagina | ||
| 6 (37.5%) |
9642627 |
Unusual magnetic resonance imaging findings of the sellar region in subjects with hypopituitarism: report of 4 cases. Zucchini S, Mazzanti L, Ambrosetto P, Salardi S, Cacciari E. J Pediatr Endocrinol Metab. 1998;11(1):35-44. |
| Syndactyly Y-shaped metacarpals | ||
| GH1 | ||
| Child Females Homo sapiens Human Growth Hormone Hypopituitarism Infant Magnetic Resonance Imaging Male Phenotype Syndrome | ||
| 7 (35.4%) |
14696812 |
Bardet-Biedl syndrome associated with vaginal atresia: a case report. Uguralp S, Demircan M, Cetin S, Sigirci A. Turk J Pediatr. 2003;45(3):273-5. |
| Optic atrophy Hand polydactyly | ||
| Bardet-Biedl Syndrome Differential Diagnosis Females Homo sapiens Vagina X-Ray Computed Tomography | ||
| 8 (32.2%) |
23913778 |
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A. Am J Med Genet A. 2013;161A(9):2216-25. |
| Gynecomastia Cone-shaped epiphysis | ||
| EXT1 GH1 TRPS1 | ||
| Adult Child Child, Preschool Chromosome Banding Chromosome Mapping Facies Follow-Up Studies Homo sapiens Langer-Giedion Syndrome Male Middle Aged Phenotype Young Adult | ||
| 9 (31.0%) |
22699466 |
Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome. Parlakgumus A, Yalcinkaya C, Kilicdag E. BMJ Case Rep. 2011;2011:. |
| Fetal megacystis Postaxial polydactyly | ||
| Adult Bardet-Biedl Syndrome Congenital Heart Defects Differential Diagnosis Females Homo sapiens Hydrocolpos Infant, Newborn Magnetic Resonance Imaging Polydactyly Pregnancy Ultrasonography, Prenatal Uterine Diseases | ||
| 9 (31.0%) |
19413227 |
Apert's syndrome: ophthalmic importance and clinical findings. Caca I, Caca FN, Sakalar YB, Erdem S, Alakus F, Ciftci S, Dogan E. Ann Ophthalmol (Skokie). 2009;41(1):44-6. |
| Hypertelorism Syndactyly | ||
| Acrocephalosyndactylia Child Child, Preschool Exophthalmos Exotropia Females Homo sapiens Male |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 45
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0030010 | Hydrometrocolpos | 14 |
| HP:0030011 | Imperforate hymen | 9 |
| HP:0030711 | Hydrocolpos | 9 |
| HP:0003762 | Uterus didelphys | 5 |
| HP:0010442 | Polydactyly | 4 |
| HP:0025025 | Rectovestibular fistula | 4 |
| HP:0100259 | Postaxial polydactyly | 4 |
| HP:0000126 | Hydronephrosis | 3 |
| HP:0001159 | Syndactyly | 3 |
| HP:0002023 | Anal atresia | 3 |
| HP:0002027 | Abdominal pain | 3 |
| HP:0008716 | Urethrovaginal fistula | 3 |
| HP:0000047 | Hypospadias | 2 |
| HP:0001195 | Single umbilical artery | 2 |
| HP:0001791 | Fetal ascites | 2 |
| HP:0030008 | Cervical agenesis | 2 |
| HP:0031923 | Hematocolpos | 2 |
| HP:0000054 | Micropenis | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000074 | Ureteropelvic junction obstruction | 1 |
| HP:0000076 | Vesicoureteral reflux | 1 |
| HP:0000125 | Pelvic kidney | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000143 | Rectovaginal fistula | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000456 | Bifid nasal tip | 1 |
| HP:0000790 | Hematuria | 1 |
| HP:0001126 | Cryptophthalmos | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001586 | Vesicovaginal fistula | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002586 | Peritonitis | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0004320 | Vaginal fistula | 1 |
| HP:0006042 | Y-shaped metacarpals | 1 |
| HP:0008689 | Bilateral cryptorchidism | 1 |
| HP:0011467 | Absent gallbladder | 1 |
| HP:0012450 | Chronic constipation | 1 |
| HP:0030127 | Endometriosis | 1 |
| HP:0031500 | Abdominal mass | 1 |
| HP:0040314 | Blind vagina | 1 |
| HP:0100806 | Sepsis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|