| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (52.1%) |
28002528 |
Redundant plantar skin folds. Damian LO, Simon SP, Felea I, Botar-Jid C, Stancu B, Rogojan L, Pamfil CA, Albu A, Rednic S. Rom J Morphol Embryol. 2016;57(3):1085-1088. |
| Downslanted palpebral fissures Syndactyly | ||
| Females Foot Homo sapiens Middle Aged Proteus Syndrome | ||
| 2 (50.0%) |
8002726 |
[Protee syndrome associated with renal lithiasis and vesico-ureteral reflux]. Ben Becher S, Bouaziz A, Harbi MM, Hammou A, Boudhina T. Arch Fr Pediatr. 1993;50(7):599-601. |
| Macrocephaly Frontal bossing Macrodactyly | ||
| SLC6A7 | ||
| Child Homo sapiens Kidney Calculi Limb Deformities, Congenital Male Proteus Syndrome Vesico-Ureteral Reflux | ||
| 3 (49.0%) |
21400985 |
A case of disproportionate macrodactyly or a mild form of Proteus syndrome? An interesting case. Abdullah S, Haflah NH, Sapuan J, Das S. Acta Medica (Hradec Kralove). 2010;53(4):243-6. |
| Overgrowth Small finger | ||
| Fingers Homo sapiens Male Proteus Syndrome Young Adult | ||
| 4 (48.8%) |
23056896 (3446058) |
A case of concurrent proteus syndrome and hemophilia a. Hashemieh M, Mansoori B, Tavakoli R, Sheibani K. Iran J Pediatr. 2012;22(2):255-9. |
| Macrocephaly Macrodactyly | ||
| 4 (48.8%) |
18816642 (2819374) |
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG. Am J Med Genet A. 2008;146A(20):2688-90. |
| Cranial asymmetry Splayed toes | ||
| PIK3CA | ||
| Congenital Foot Deformity Females Homo sapiens Infant, Newborn Lipomatosis Lymphatic Abnormalities Malformations of Cortical Development Nevus Pregnancy Seizures Syndrome | ||
| 4 (48.8%) |
12695139 |
A minimal form of Proteus syndrome presenting with macrodactyly and hand hyperplasia. Morelli F, Feliciani C, Toto P, De Benedetto A, Tulli A. Eur J Dermatol. 2003;13(2):196-8. |
| Macrocephaly Macrodactyly | ||
| Adult Congenital Hand Deformities Diagnostic Errors Hand Homo sapiens Hyperplasia Male Proteus Syndrome | ||
| 4 (48.8%) |
7971556 |
Proteus syndrome. Darmstadt GL, Lane AT. Pediatr Dermatol. 1994;11(3):222-6. |
| Macrocephaly Macrodactyly | ||
| Differential Diagnosis Females Foot Homo sapiens Hyperplasia Hypertrophy Infant Proteus Syndrome | ||
| 4 (48.8%) |
3234431 |
Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis. Bialer MG, Riedy MJ, Wilson WG. Eur J Pediatr. 1988;148(2):122-5. |
| Macrocephaly Macrodactyly | ||
| Child, Preschool Differential Diagnosis Females Fingers Hemangioma Homo sapiens Hypertrophy Lipoma Neoplasms, Multiple Primary Syndrome X-Ray Computed Tomography | ||
| 4 (48.8%) |
1338804 |
[Proteus syndrome. Expansion of the phenotype. Apropos of 3 pediatric cases]. Hulsmans RF, Schrander-Stumpel CR, Koopman RJ, Hoorntje TM, Starink TM. Phlebologie. 1992;45(4):463-9. |
| Macrocephaly Macrodactyly | ||
| Angiodysplasia Chest Child, Preschool Differential Diagnosis Heart Neoplasm Hemangioma Homo sapiens Infant Klippel-Trenaunay-Weber Syndrome Male Phenotype Proteus Syndrome Rhabdomyoma Skin Neoplasms | ||
| 10 (47.6%) |
16525914 |
[Proteus syndrome with cerebral vascular malformations]. Badia MC, Chamarro R, Lainez JM, Piera A. Neurologia. 2006;21(2):88-91. |
| Facial asymmetry Macrodactyly | ||
| Brain Cardiovascular Abnormalities Cerebrovascular Circulation Homo sapiens Male Middle Aged Proteus Syndrome |
Total: 101
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000995 | Melanocytic nevus | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Very frequent (99-80%) |
| HP:0001167 | Abnormality of finger | Very frequent (99-80%) |
| HP:0001482 | Subcutaneous nodule | Very frequent (99-80%) |
| HP:0001519 | Disproportionate tall stature | Very frequent (99-80%) |
| HP:0001555 | Asymmetry of the thorax | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0003199 | Decreased muscle mass | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0004099 | Macrodactyly | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0005306 | Capillary hemangioma | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | Very frequent (99-80%) |
| HP:0010816 | Epidermal nevus | Very frequent (99-80%) |
| HP:0011276 | Vascular skin abnormality | Very frequent (99-80%) |
| HP:0012032 | Lipoma | Very frequent (99-80%) |
| HP:0100026 | Arteriovenous malformation | Very frequent (99-80%) |
| HP:0100555 | Asymmetric growth | Very frequent (99-80%) |
| HP:0100559 | Lower limb asymmetry | Very frequent (99-80%) |
| HP:0100560 | Upper limb asymmetry | Very frequent (99-80%) |
| HP:0100764 | Lymphangioma | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000311 | Round face | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0001004 | Lymphedema | Frequent (79-30%) |
| HP:0002204 | Pulmonary embolism | Frequent (79-30%) |
| HP:0004418 | Thrombophlebitis | Frequent (79-30%) |
| HP:0004490 | Calvarial hyperostosis | Frequent (79-30%) |
| HP:0005595 | Generalized hyperkeratosis | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0006525 | obsolete Lung segmentation defects | Frequent (79-30%) |
| HP:0007565 | Multiple cafe-au-lait spots | Frequent (79-30%) |
| HP:0010566 | Hamartoma | Frequent (79-30%) |
| HP:0100730 | Bronchogenic cyst | Frequent (79-30%) |
| HP:0100761 | Visceral angiomatosis | Frequent (79-30%) |
| HP:0100774 | Hyperostosis | Frequent (79-30%) |
| HP:0000040 | Long penis | Occasional (29-5%) |
| HP:0000053 | Macroorchidism | Occasional (29-5%) |
| HP:0000107 | Renal cyst | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000464 | Abnormality of the neck | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000557 | Buphthalmos | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000670 | Carious teeth | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000873 | Diabetes insipidus | Occasional (29-5%) |
| HP:0001163 | Abnormality of the metacarpal bones | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001597 | Abnormality of the nail | Occasional (29-5%) |
| HP:0001645 | Sudden cardiac death | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001822 | Hallux valgus | Occasional (29-5%) |
| HP:0002230 | Generalized hirsutism | Occasional (29-5%) |
| HP:0002282 | Gray matter heterotopia | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002719 | Recurrent infections | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0002858 | Meningioma | Occasional (29-5%) |
| HP:0003019 | Abnormality of the wrist | Occasional (29-5%) |
| HP:0003715 | Myofibrillar myopathy | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004420 | Arterial thrombosis | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0007440 | Generalized hyperpigmentation | Occasional (29-5%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (29-5%) |
| HP:0007818 | Central heterochromia | Occasional (29-5%) |
| HP:0007899 | Retinal nonattachment | Occasional (29-5%) |
| HP:0008675 | Enlarged polycystic ovaries | Occasional (29-5%) |
| HP:0009594 | Retinal hamartoma | Occasional (29-5%) |
| HP:0009804 | Reduced number of teeth | Occasional (29-5%) |
| HP:0009928 | Thick nasal alae | Occasional (29-5%) |
| HP:0010497 | Sirenomelia | Occasional (29-5%) |
| HP:0010508 | Metatarsus valgus | Occasional (29-5%) |
| HP:0010516 | Thymus hyperplasia | Occasional (29-5%) |
| HP:0010788 | Testicular neoplasm | Occasional (29-5%) |
| HP:0011386 | Narrow internal auditory canal | Occasional (29-5%) |
| HP:0100006 | Neoplasm of the central nervous system | Occasional (29-5%) |
| HP:0100521 | Neoplasm of the thymus | Occasional (29-5%) |
| HP:0100526 | Neoplasm of the lung | Occasional (29-5%) |
| HP:0100615 | Ovarian neoplasm | Occasional (29-5%) |
| HP:0100777 | Exostoses | Occasional (29-5%) |
Total: 87
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001548 | Overgrowth | 53 |
| HP:0001528 | Hemihypertrophy | 23 |
| HP:0004099 | Macrodactyly | 20 |
| HP:0010816 | Epidermal nevus | 14 |
| HP:0012032 | Lipoma | 10 |
| HP:0002650 | Scoliosis | 9 |
| HP:0100777 | Exostoses | 8 |
| HP:0001028 | Hemangioma | 7 |
| HP:0010566 | Hamartoma | 7 |
| HP:0000256 | Macrocephaly | 6 |
| HP:0002664 | Neoplasm | 4 |
| HP:0100774 | Hyperostosis | 4 |
| HP:0100898 | Connective tissue nevi | 4 |
| HP:0012721 | Venous malformation | 3 |
| HP:0000717 | Autism | 2 |
| HP:0001031 | Subcutaneous lipoma | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0002015 | Dysphagia | 2 |
| HP:0002204 | Pulmonary embolism | 2 |
| HP:0002619 | Varicose veins | 2 |
| HP:0002751 | Kyphoscoliosis | 2 |
| HP:0002878 | Respiratory failure | 2 |
| HP:0031500 | Abdominal mass | 2 |
| HP:0100026 | Arteriovenous malformation | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000072 | Hydroureter | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000212 | Gingival overgrowth | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000541 | Retinal detachment | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000790 | Hematuria | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000836 | Hyperthyroidism | 1 |
| HP:0000957 | Cafe-au-lait spot | 1 |
| HP:0000962 | Hyperkeratosis | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001012 | Multiple lipomas | 1 |
| HP:0001072 | Thickened skin | 1 |
| HP:0001087 | Developmental glaucoma | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001338 | Partial agenesis of the corpus callosum | 1 |
| HP:0001385 | Hip dysplasia | 1 |
| HP:0001537 | Umbilical hernia | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001698 | Pericardial effusion | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002097 | Emphysema | 1 |
| HP:0002144 | Tethered cord | 1 |
| HP:0002176 | Spinal cord compression | 1 |
| HP:0002385 | Paraparesis | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002625 | Deep venous thrombosis | 1 |
| HP:0002638 | Superficial thrombophlebitis | 1 |
| HP:0002678 | Skull asymmetry | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002779 | Tracheomalacia | 1 |
| HP:0002857 | Genu valgum | 1 |
| HP:0002875 | Exertional dyspnea | 1 |
| HP:0002947 | Cervical kyphosis | 1 |
| HP:0002948 | Vertebral fusion | 1 |
| HP:0003416 | Spinal canal stenosis | 1 |
| HP:0004493 | Craniofacial hyperostosis | 1 |
| HP:0005306 | Capillary hemangioma | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0008714 | Ureterovesical stenosis | 1 |
| HP:0010507 | Foot asymmetry | 1 |
| HP:0010550 | Paraplegia | 1 |
| HP:0010614 | Fibroma | 1 |
| HP:0010815 | Nevus sebaceous | 1 |
| HP:0011344 | Severe global developmental delay | 1 |
| HP:0012031 | Lipomatous tumor | 1 |
| HP:0012230 | Rhegmatogenous retinal detachment | 1 |
| HP:0025104 | Capillary malformation | 1 |
| HP:0025318 | Ovarian carcinoma | 1 |
| HP:0030075 | Ductal carcinoma in situ | 1 |
| HP:0030127 | Endometriosis | 1 |
| HP:0030242 | Portal vein thrombosis | 1 |
| HP:0100246 | Osteoma | 1 |
| HP:0100555 | Asymmetric growth | 1 |
| HP:0100559 | Lower limb asymmetry | 1 |
| HP:0100578 | Lipoatrophy | 1 |