| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 7 (4.0%) |
21494817 |
[Incidental finding of bilateral altitudinal visual field defects]. Mojon D. Ophthalmologe. 2011;108(8):771-5. |
| Maternal diabetes | ||
| Adult Altitude Sickness Females Fluorescein Angiography Gestational Diabetes Homo sapiens Incidental Findings Optic Disk Optic Nerve Pregnancy Visual Fields | ||
| 7 (4.0%) |
15127755 |
Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes. Versiani BR, Gilbert-Barness E, Giuliani LR, Peres LC, Pina-Neto JM. Clin Dysmorphol. 2004;13(1):1-5. |
| Diabetes mellitus | ||
| INS | ||
| Diabetes Mellitus Ectromelia Females Fetus Gestational Diabetes Homo sapiens Infant Infant, Newborn Phenotype Pregnancy Pregnancy in Diabetics | ||
| 7 (4.0%) |
12238867 |
Anomalous origin of left coronary artery from the right pulmonary artery in association with type III aortopulmonary window and interrupted aortic arch. McMahon CJ, DiBardino DJ, Undar A, Fraser CD Jr. Ann Thorac Surg. 2002;74(3):919-21. |
| Aortopulmonary window | ||
| Aortopulmonary Septal Defect Blood Vessel Prosthesis Implantation Coronary Vessel Anomalies Females Homo sapiens Infant, Newborn Infant, Premature, Diseases | ||
| 7 (4.0%) |
11170094 |
Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis. Makhoul IR, Aviram-Goldring A, Paperna T, Sujov P, Rienstein S, Smolkin T, Epelman M, Gershoni-Baruch R. Am J Med Genet. 2001;99(1):54-8. |
| Anal atresia | ||
| Anus, Imperforate Cytogenetic Analysis DNA Fatal Outcome Homo sapiens Infant, Newborn Kidney Male Syndrome | ||
| 7 (4.0%) |
9212182 |
Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies. Erickson RP, Stone JF, McNoe LA, Eccles MR. Clin Genet. 1997;51(5):331-7. |
| Cataract | ||
| PAX2 SRY | ||
| DNA-Binding Proteins Disorders of Sex Development Females Gene Deletion Homo sapiens Infant Infant, Newborn PAX2 Transcription Factor | ||
| 7 (4.0%) |
8960613 |
Femoral hypoplasia and maternal diabetes: consider femoral hypoplasia/unusual facies syndrome. Hinson RM, Miller RC, Macri CJ. Am J Perinatol. 1996;13(7):433-6. |
| Maternal diabetes | ||
| Adult Differential Diagnosis Facies Females Femur Homo sapiens Pregnancy Pregnancy in Diabetics Syndrome Ultrasonography, Prenatal | ||
| 7 (4.0%) |
7801305 |
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. McCoy MC, Chescheir NC, Kuller JA, Altman GC, Flannagan LM. Teratology. 1994;50(2):168-71. |
| Persistent cloaca | ||
| Adult Autopsy Diseases in Twins Ectromelia Females Homo sapiens Kidney Meningomyelocele Pregnancy | ||
| 7 (4.0%) |
6891697 |
Association of bilateral renal agenesis and Di George syndrome in an infant of a diabetic mother. Gosseye S, Golaire MC, Verellen G, Van Lierde M, Claus D. Helv Paediatr Acta. 1982;37(5):471-4. |
| Maternal diabetes | ||
| DiGeorge Syndrome Females Homo sapiens Immunologic Deficiency Syndromes Infant, Newborn Kidney Male Pregnancy Pregnancy in Diabetics | ||
| 7 (4.0%) |
6393099 |
The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity. Welch JP, Aterman K. Pediatr Pathol. 1984;2(3):313-27. |
| Maternal diabetes | ||
| Adult Animals Complications of Diabetes Mellitus Diabetes Mellitus, Experimental Differential Diagnosis Females Homo sapiens Infant, Newborn Male Pregnancy Pregnancy in Diabetics Sex Factors Syndrome | ||
| 7 (4.0%) |
2180307 |
Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus. Sonek JD, Gabbe SG, Landon MB, Stempel LE, Foley MR, Shubert-Moell K. Am J Obstet Gynecol. 1990;162(3):806-8. |
| Nephropathy | ||
| Adult Females Homo sapiens Leg Male Male Genital Organs Pregnancy Pregnancy in Diabetics Syndrome Ultrasonography |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002607 | Bowel incontinence | Very frequent (99-80%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
| HP:0003199 | Decreased muscle mass | Very frequent (99-80%) |
| HP:0005640 | Abnormal vertebral segmentation and fusion | Very frequent (99-80%) |
| HP:0008479 | Hypoplastic vertebral bodies | Very frequent (99-80%) |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum | Very frequent (99-80%) |
| HP:0009800 | Maternal diabetes | Very frequent (99-80%) |
| HP:0011867 | Abnormality of the wing of the ilium | Very frequent (99-80%) |
| HP:0100710 | Impulsivity | Very frequent (99-80%) |
| HP:0000069 | Abnormality of the ureter | Frequent (79-30%) |
| HP:0000073 | Ureteral duplication | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
| HP:0000086 | Ectopic kidney | Frequent (79-30%) |
| HP:0000104 | Renal agenesis | Frequent (79-30%) |
| HP:0001315 | Reduced tendon reflexes | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002023 | Anal atresia | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002139 | Arrhinencephaly | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009800 | Maternal diabetes | 3 |
| HP:0000518 | Cataract | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0010458 | Female pseudohermaphroditism | 1 |
| HP:0011604 | Aortopulmonary window | 1 |
| HP:0011613 | Interrupted aortic arch type B | 1 |
| HP:0025407 | Rectourethral fistula | 1 |