| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (31.0%) |
6426304 |
Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Halal F, Homsy M, Perreault G. Am J Med Genet. 1984;17(4):753-62. |
| Bladder diverticulum Preaxial polydactyly | ||
| Adult Dermatoglyphics Eye Abnormalities Females Fingers Genes, Dominant Homo sapiens Infant Kidney Male Middle Aged Nails, Malformed Quebec Syndrome Toes | ||
| 2 (21.2%) |
29054766 |
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication. Liu J, Wang P, Huang J, Yu Z. Gene. 2018;641:74-77. |
| Myopia Camptodactyly | ||
| c|DUP|220_225|| | ||
| Bone Density Child Congenital Hand Deformities Females Homo sapiens Kidney Failure, Chronic Myopia PAX2 Transcription Factor Renal Insufficiency Vesico-Ureteral Reflux | ||
| 3 (4.0%) |
27661448 (6238016) |
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A. Ophthalmic Genet. 2017;38(4):371-375. |
| Anophthalmia | ||
| BMP4 | ||
| c|SUB|C|575|A;RS#:376632759 c|SUB|G|2053|C p|SUB|A|192|E;RS#:376632759 p|SUB|D|685|H | ||
| Exome Females Growth Disorders Heart Septal Defects Homo sapiens Infant Microphthalmos Missense Mutation Phenotype Polymerase Chain Reaction Sequence Analysis, DNA | ||
| 3 (4.0%) |
9823489 |
Acro-renal-ocular syndrome: expansion of the phenotype. Guillen-Navarro E, Wallerstein R, Reich E, Zajac L, Ostrer H. Clin Dysmorphol. 1998;7(4):243-8. |
| Strabismus | ||
| Child, Preschool Females Genes, Dominant Homo sapiens Kidney Male Phenotype Strabismus Syndrome | ||
| 3 (4.0%) |
8882787 |
Further delineation of the acro-renal-ocular syndrome. Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC. Am J Med Genet. 1996;62(3):276-81. |
| Coloboma | ||
| Adult Congenital Hand Deformities Eye Abnormalities Females Homo sapiens Male Middle Aged Uterus | ||
| 3 (4.0%) |
8052350 |
Renal involvement in acro-renal-ocular syndrome: interstitial nephritis, unlikely pyelonephritis. Boscutti G, Pizzolitto S, Montanaro D, Messa P, Messa M, Favazza A, Beltrami CA, Mioni G. Nephron. 1994;67(1):104-8. |
| Nephropathy | ||
| Adult Bone and Bones Differential Diagnosis Eye Abnormalities Females Homo sapiens Nephritis, Interstitial Pyelonephritis Syndrome Uterus | ||
| 3 (4.0%) |
2644560 |
Nature of renal involvement in the acro-renal-ocular syndrome. Naito T, Kida H, Yokoyama H, Abe T, Takeda S, Uno D, Hattori N. Nephron. 1989;51(1):115-8. |
| Proteinuria | ||
| rs104894170 | ||
| Biopsy Electron Microscopy Females Homo sapiens Kidney Diseases Kidney Failure, Chronic Limb Deformities, Congenital Syndrome Ventricular Septal Defects X-Ray Computed Tomography |
Total: 44
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000085 | Horseshoe kidney | Very frequent (99-80%) |
| HP:0001172 | Abnormal thumb morphology | Very frequent (99-80%) |
| HP:0002818 | Abnormality of the radius | Very frequent (99-80%) |
| HP:0004712 | Renal malrotation | Very frequent (99-80%) |
| HP:0004736 | Crossed fused renal ectopia | Very frequent (99-80%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Very frequent (99-80%) |
| HP:0009650 | Short distal phalanx of the thumb | Very frequent (99-80%) |
| HP:0009778 | Short thumb | Very frequent (99-80%) |
| HP:0000015 | Bladder diverticulum | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000588 | Optic nerve coloboma | Frequent (79-30%) |
| HP:0001177 | Preaxial hand polydactyly | Frequent (79-30%) |
| HP:0001199 | Triphalangeal thumb | Frequent (79-30%) |
| HP:0001852 | Sandal gap | Frequent (79-30%) |
| HP:0003022 | Hypoplasia of the ulna | Frequent (79-30%) |
| HP:0004059 | Radial club hand | Frequent (79-30%) |
| HP:0007766 | Optic disc hypoplasia | Frequent (79-30%) |
| HP:0008678 | Renal hypoplasia/aplasia | Frequent (79-30%) |
| HP:0010059 | Broad hallux phalanx | Frequent (79-30%) |
| HP:0010109 | Short hallux | Frequent (79-30%) |
| HP:0012745 | Short palpebral fissure | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000589 | Coloboma | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002948 | Vertebral fusion | Occasional (29-5%) |
| HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
| HP:0005792 | Short humerus | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0008897 | Postnatal growth retardation | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000589 | Coloboma | 2 |
| HP:0009921 | Duane anomaly | 2 |
| HP:0000112 | Nephropathy | 1 |
| HP:0000123 | Nephritis | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0012330 | Pyelonephritis | 1 |