| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (64.7%) |
7439199 |
A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother. Bruyere HJ Jr, Viseskul C, Opitz JM, Langer LO Jr, Ishikawa S, Gilbert EF. Eur J Pediatr. 1980;134(2):139-43. |
| Micrognathia Cleft lip | ||
| Atrial Septal Defects Cleft Palate Dandy-Walker Syndrome Ectromelia Females Homo sapiens Hydrocephalus Infant, Newborn Infant, Premature, Diseases Leg Male Pregnancy Pregnancy in Diabetics | ||
| 2 (49.1%) |
18528244 |
Unilateral short femur--what does this mean? Report of 3 cases. Oh KY, Frias AE Jr, Byrne JL, Kennedy AM. Ultrasound Q. 2008;24(2):89-92. |
| Skeletal dysplasia Short femur | ||
| Adult Bone Diseases, Developmental Differential Diagnosis Females Femur Homo sapiens Magnetic Resonance Imaging Pregnancy Transducers Ultrasonography, Prenatal | ||
| 3 (47.6%) |
18655703 (2503995) |
Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report. Tantbirojn P, Taweevisit M, Sritippayawan S, Uerpairojkit B. J Med Case Rep. 2008;2:251. |
| Polydactyly Prominent forehead | ||
| 4 (33.1%) |
281283 |
Bilateral femoral dysgenesis syndrome: a case report. Goldberg RB, Fish B, Cohen MM Jr, Shprintzen RJ. Cleft Palate J. 1978;15(4):386-9. |
| Syndactyly Pilonidal sinus | ||
| Child, Preschool Cleft Palate Face Females Femur Homo sapiens Pulmonary Valve Stenosis Ventricular Septal Defects | ||
| 5 (31.0%) |
9132503 |
Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy. Slee J, Goldblatt J. J Med Genet. 1997;34(3):261-3. |
| Maternal diabetes Polydactyly | ||
| Child, Preschool Females Fetal Macrosomia Homo sapiens Leg Polydactyly Pregnancy Pregnancy in Diabetics | ||
| 6 (4.0%) |
30362177 |
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. Taylor RAM, Mackie A, Mogra R, Pinner J, Rajendran S, Ross GP. Diabet Med. 2019;36(2):252-255. |
| Diabetes mellitus | ||
| GCK | ||
| p|SUB|V|199|M | ||
| Adult Diabetes Mellitus, Non-Insulin-Dependent Females Fetus Glucokinase Heterozygote Homo sapiens Hyperglycemia Missense Mutation Pregnancy Pregnancy in Diabetics | ||
| 6 (4.0%) |
25386687 |
A novel association of biventricular cardiac noncompaction and diabetic embryopathy: case report and review of the literature. Woo JS, Perez-Rosendahl M, Haydel D, Perens G, Fishbein MC. Pediatr Dev Pathol. 2015;18(1):71-5. |
| Diabetes mellitus | ||
| Complications of Diabetes Mellitus Congenital Heart Defects Echocardiography Fatal Outcome Females Fetal Diseases Heart Heart Diseases Heart Ventricle Homo sapiens Myocardium Pregnancy Pregnancy Complications Pregnancy in Diabetics | ||
| 6 (4.0%) |
23737573 |
Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. Palacios-Marques A, Oliver C, Martin-Bayon T, Martinez-Escoriza JC. BMJ Case Rep. 2013;2013:. |
| Maternal diabetes | ||
| Adult Diabetes Mellitus, Insulin-Dependent Differential Diagnosis Females Homo sapiens Male Pregnancy Pregnancy Outcome Pregnancy in Diabetics Sacrococcygeal Region Ultrasonography, Prenatal Young Adult | ||
| 6 (4.0%) |
14983663 |
Lumbosacral agenesis in a premature infant of a diabetic mother. Lee MC, Wang PJ, Chen RL. Acta Paediatr Taiwan. 2003;44(6):375-8. |
| Respiratory distress | ||
| Diabetes Mellitus, Insulin-Dependent Females Homo sapiens Infant, Newborn Lumbosacral Region Male Pregnancy Pregnancy in Diabetics Preterm Infant | ||
| 6 (4.0%) |
10069704 |
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother. Gripp KW, Barr M Jr, Anadiotis G, McDonald-McGinn DM, Zderic SA, Zackai EH. Am J Med Genet. 1999;82(5):363-7. |
| Anal atresia | ||
| Central Nervous System Congenital Abnormality Congenital Heart Defects Females Fetus Gestational Diabetes Homo sapiens Infant, Newborn Male Pregnancy Pregnancy in Diabetics Sacrococcygeal Region Urogenital Abnormalities |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000008 | Abnormality of female internal genitalia | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Very frequent (99-80%) |
| HP:0000073 | Ureteral duplication | Very frequent (99-80%) |
| HP:0000126 | Hydronephrosis | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000464 | Abnormality of the neck | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001636 | Tetralogy of Fallot | Very frequent (99-80%) |
| HP:0001669 | Transposition of the great arteries | Very frequent (99-80%) |
| HP:0001679 | Abnormal aortic morphology | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0003422 | Vertebral segmentation defect | Very frequent (99-80%) |
| HP:0004414 | Abnormality of the pulmonary artery | Very frequent (99-80%) |
| HP:0005107 | Abnormal sacrum morphology | Very frequent (99-80%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0008678 | Renal hypoplasia/aplasia | Very frequent (99-80%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent (99-80%) |
| HP:0000098 | Tall stature | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000707 | Abnormality of the nervous system | Frequent (79-30%) |
| HP:0001195 | Single umbilical artery | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0010301 | Spinal dysraphism | Frequent (79-30%) |
| HP:0001732 | Abnormality of the pancreas | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0010442 | Polydactyly | 2 |
| HP:0000021 | Megacystis | 1 |
| HP:0000072 | Hydroureter | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001622 | Premature birth | 1 |
| HP:0003097 | Short femur | 1 |
| HP:0009800 | Maternal diabetes | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|