| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (64.3%) |
9934984 |
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. Am J Med Genet. 1999;82(2):170-6. |
| Bicoronal synostosis Unilateral radial aplasia | ||
| TWIST1 | ||
| p|SUB|E|181|X;RS#:104894058 rs104894058 rs1554441994 | ||
| Adult Craniosynostosis Facies Females Genetic Heterogeneity Homo sapiens Infant, Newborn Male Mutation Nuclear Proteins Syndrome Twist-Related Protein 1 | ||
| 2 (57.7%) |
24648351 |
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition? Valdez CM, Altmayer SP, Barrow MA, Telles JA, Betat Rda S, Zen PR, Rosa RF. Am J Med Genet A. 2014;164A(5):1085-91. |
| Encephalocele Phocomelia | ||
| Adult Congenital Heart Defects Differential Diagnosis Esophagus Females Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Phenotype Pregnancy Stillbirth Syndrome Trachea Ultrasonography, Prenatal | ||
| 3 (54.9%) |
20676578 |
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. Bernardi P, Graziadio C, Rosa RF, Pfeil JN, Zen PR, Paskulin GA. Sao Paulo Med J. 2010;128(2):99-101. |
| Long philtrum Polydactyly | ||
| Abortifacient Agents, Nonsteroidal Congenital Foot Deformity Females Fibula Homo sapiens Infant Polydactyly | ||
| 4 (52.1%) |
1633641 |
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Clin Genet. 1992;41(1):22-4. |
| Epicanthus Clinodactyly | ||
| rs111515657 rs760791115 | ||
| Congenital Hand Deformities Face Females Fingers Homo sapiens Infant, Newborn Intellectual Disability Phenotype Syndrome | ||
| 5 (52.0%) |
9916841 |
VACTERL manifestations in two generations of a family. Nezarati MM, McLeod DR. Am J Med Genet. 1999;82(1):40-2. |
| Triphalangeal thumb Asymmetric crying face | ||
| Adult Aneuploidy Females Hand Homo sapiens Infant, Newborn Male Polydactyly Pregnancy | ||
| 6 (50.2%) |
9391893 |
Radial aplasia and chromosome 22q11 deletion. Digilio MC, Giannotti A, Marino B, Guadagni AM, Orzalesi M, Dallapiccola B. J Med Genet. 1997;34(11):942-4. |
| Coloboma Unilateral radial aplasia | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 Congenital Heart Defects Eye Abnormalities Face Homo sapiens Infant, Newborn Male Urogenital Abnormalities | ||
| 7 (49.0%) |
14577674 |
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. Temtamy SA, Aglan MS, Nemat A, Eid M. Genet Couns. 2003;14(3):299-312. |
| Blue sclerae Absent thumb | ||
| Child, Preschool Craniosynostosis Differential Diagnosis Females Foot Deformities Genetic Counseling Homo sapiens Phenotype Syndrome | ||
| 8 (47.6%) |
24479055 (3894007) |
Oculoauriculovertebral spectrum with radial anomaly in child. Taksande A, Vilhekar K. J Family Med Prim Care. 2013;2(1):92-4. |
| Facial asymmetry Preaxial polydactyly | ||
| 9 (45.7%) |
16195913 |
A neonate with anorectal malformation with rare limb defects report of a case. Ratan SK, Rattan KN, Ratan J, Sodhi PK, Bhatia V. Pediatr Surg Int. 2005;21(10):825-8. |
| Oligohydramnios Meromelia | ||
| Anus, Imperforate Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Ventricular Septal Defects | ||
| 10 (44.0%) |
14564222 |
A case of dextrocardia, radial ray malformation and renal anomaly. Nallegowda M, Singh U, Shivananda , Shukla R, Kabra M. Clin Dysmorphol. 2003;12(4):285-6. |
| Hypospadias Scoliosis Radial club hand | ||
| Child Dextrocardia Fanconi Anemia Homo sapiens Kidney Male |
Total: 41
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001561 | Polyhydramnios | Very frequent (99-80%) |
| HP:0001622 | Premature birth | Very frequent (99-80%) |
| HP:0002023 | Anal atresia | Very frequent (99-80%) |
| HP:0002777 | Tracheal stenosis | Very frequent (99-80%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Very frequent (99-80%) |
| HP:0000086 | Ectopic kidney | Frequent (79-30%) |
| HP:0000104 | Renal agenesis | Frequent (79-30%) |
| HP:0000776 | Congenital diaphragmatic hernia | Frequent (79-30%) |
| HP:0001601 | Laryngomalacia | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002575 | Tracheoesophageal fistula | Frequent (79-30%) |
| HP:0003422 | Vertebral segmentation defect | Frequent (79-30%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000008 | Abnormality of female internal genitalia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000048 | Bifid scrotum | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000239 | Large fontanelles | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000795 | Abnormality of the urethra | Occasional (29-5%) |
| HP:0001048 | Cavernous hemangioma | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001195 | Single umbilical artery | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001732 | Abnormality of the pancreas | Occasional (29-5%) |
| HP:0002085 | Occipital encephalocele | Occasional (29-5%) |
| HP:0002323 | Anencephaly | Occasional (29-5%) |
| HP:0005107 | Abnormal sacrum morphology | Occasional (29-5%) |
| HP:0005108 | Abnormality of the intervertebral disk | Occasional (29-5%) |
| HP:0005264 | Abnormality of the gallbladder | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0012732 | Anorectal anomaly | Occasional (29-5%) |
| HP:0100335 | Non-midline cleft lip | Occasional (29-5%) |
Total: 81
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002023 | Anal atresia | 41 |
| HP:0002575 | Tracheoesophageal fistula | 22 |
| HP:0000238 | Hydrocephalus | 8 |
| HP:0001195 | Single umbilical artery | 4 |
| HP:0010442 | Polydactyly | 4 |
| HP:0000047 | Hypospadias | 3 |
| HP:0001629 | Ventricular septal defect | 3 |
| HP:0010775 | Vascular ring | 3 |
| HP:0100841 | Microgastria | 3 |
| HP:0000126 | Hydronephrosis | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001602 | Laryngeal stenosis | 2 |
| HP:0002650 | Scoliosis | 2 |
| HP:0002937 | Hemivertebrae | 2 |
| HP:0003316 | Butterfly vertebrae | 2 |
| HP:0004961 | Pulmonary artery sling | 2 |
| HP:0100682 | Tracheal atresia | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000042 | Absent external genitalia | 1 |
| HP:0000072 | Hydroureter | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000143 | Rectovaginal fistula | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000473 | Torticollis | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000495 | Recurrent corneal erosions | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001031 | Subcutaneous lipoma | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001081 | Cholelithiasis | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002025 | Anal stenosis | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002144 | Tethered cord | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002321 | Vertigo | 1 |
| HP:0002444 | Hypothalamic hamartoma | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0003298 | Spina bifida occulta | 1 |
| HP:0003418 | Back pain | 1 |
| HP:0004871 | Perineal fistula | 1 |
| HP:0004947 | Arteriovenous fistula | 1 |
| HP:0005301 | Persistent left superior vena cava | 1 |
| HP:0007185 | Loss of consciousness | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0008750 | Laryngeal atresia | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0009829 | Phocomelia | 1 |
| HP:0010458 | Female pseudohermaphroditism | 1 |
| HP:0010481 | Urethral valve | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0011090 | Fused teeth | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0012032 | Lipoma | 1 |
| HP:0012109 | Angle closure glaucoma | 1 |
| HP:0025025 | Rectovestibular fistula | 1 |
| HP:0025489 | Bladder duplication | 1 |
| HP:0030010 | Hydrometrocolpos | 1 |
| HP:0030127 | Endometriosis | 1 |
| HP:0030275 | Ectopic scrotum | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0031456 | Ectopic pregnancy | 1 |
| HP:0031500 | Abdominal mass | 1 |
| HP:0031842 | Lymphangiectasis | 1 |
| HP:0040012 | Chromosome breakage | 1 |
| HP:0100632 | Pulmonary sequestration | 1 |
| HP:0100790 | Hernia | 1 |
| HP:0100817 | Renovascular hypertension | 1 |