| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 42 (4.0%) |
23758322 |
Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. Soohoo JR, McCourt EA, Lenahan DS, Oliver SC. Ophthalmic Surg Lasers Imaging Retina. 2013;44(4):398-400. |
| Glaucoma | ||
| Females Fluorescein Angiography Homo sapiens Infant Livedo Reticularis Skin Diseases, Vascular Telangiectasis | ||
| 42 (4.0%) |
23115721 (3482331) |
Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. Matic A, Pricic S, Matic M, Velisavljev Filipovic G, Ristivojevic A. Iran Red Crescent Med J. 2012;14(9):578-83. |
| Low-set ears | ||
| 42 (4.0%) |
18792971 |
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita. Hinek A, Jain S, Taylor G, Nykanen D, Chitayat D. Am J Med Genet A. 2008;146A(19):2520-7. |
| Hypertension | ||
| ELN SERPINA1 | ||
| Autoradiography Biological Models Case-Control Studies Cultured Cells Fibroblasts Homo sapiens Immunohistochemistry Infant Male Reference Standards Skin Skin Diseases, Vascular Skin Ulcer Tropoelastin | ||
| 42 (4.0%) |
18597236 |
Aplasia cutis congenita of the scalp, skull and dura associated with Adams-Oliver syndrome. Bilginer B, Onal MB, Bahadir S, Akalan N. Turk Neurosurg. 2008;18(2):191-3. |
| Scrotal hyperpigmentation | ||
| Brain Dura Mater Ectodermal Dysplasia Fatal Outcome Homo sapiens Infant, Newborn Male Syndrome | ||
| 42 (4.0%) |
18429779 |
Phacomatosis pigmentovascularis type Va in a 3-month old. Larralde M, Santos-Munoz A, Rodriguez Caceres M, Ciardiullo A. Pediatr Dermatol. 2008;25(2):198-200. |
| Melanocytic nevus | ||
| Child, Preschool Females Homo sapiens Infant Mongolian Spot Neurocutaneous Syndromes | ||
| 42 (4.0%) |
18035989 |
Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease. Dadzie OE, Tyszczuk L, Holder SE, Teixeira F, Charakida A, Scarisbrick J, Chu A. Pediatr Dermatol. 2007;24(6):651-3. |
| Cutis marmorata | ||
| Cardiovascular Abnormalities Fatal Outcome Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Nails, Malformed Skin Diseases, Vascular Syndrome Telangiectasis | ||
| 42 (4.0%) |
17766224 |
[Cutis marmorata telangiectatica congenita--case report]. Flach E, Kellermayer R, Ertl T, Vida G, Sarkany I, Funke S, Gyarmati J. Orv Hetil. 2007;148(36):1717-20. |
| Cutis marmorata | ||
| Homo sapiens Infant, Newborn Preterm Infant | ||
| 42 (4.0%) |
17524689 |
Late-onset pediatric glaucoma associated with cutis marmorata telangiectatica congenita managed with Molteno implant surgery: case report and review of the literature. Murphy CC, Khong CH, Ward WJ, Morgan WH. J AAPOS. 2007;11(5):519-21. |
| Glaucoma | ||
| Child Differential Diagnosis Filtering Surgery Follow-Up Studies Glaucoma, Open-Angle Gonioscopy Homo sapiens Male Molteno Implants Time Factors X-Ray Computed Tomography | ||
| 42 (4.0%) |
17291305 |
Cutis marmorata telangiectatica congenita and chronic autoimmune urticaria in a young man. Melani L, Antiga E, Torchia D, Giomi B, Massi D, Caproni M, Emmi L, Fabbri P. J Dermatol. 2007;34(3):210-3. |
| Urticaria | ||
| Adult Autoimmune Diseases Homo sapiens Male Skin Skin Diseases, Vascular Urticaria | ||
| 42 (4.0%) |
17260324 |
[Bilateral congenital glaucoma in a child with cutis marmorata telangiectatica congenita: a case report]. Spitzer MS, Szurman P, Rohrbach JM, Aisenbrey S. Klin Monbl Augenheilkd. 2007;224(1):66-9. |
| Glaucoma | ||
| Females Glaucoma Homo sapiens Infant Rare Diseases Telangiectasis |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000951 | Abnormality of the skin | Very frequent (99-80%) |
| HP:0000965 | Cutis marmorata | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001933 | Subcutaneous hemorrhage | Very frequent (99-80%) |
| HP:0002814 | Abnormality of the lower limb | Very frequent (99-80%) |
| HP:0002817 | Abnormality of the upper limb | Very frequent (99-80%) |
| HP:0006385 | Short lower limbs | Very frequent (99-80%) |
| HP:0100026 | Arteriovenous malformation | Very frequent (99-80%) |
| HP:0200041 | Skin erosion | Very frequent (99-80%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0000555 | Leukocoria | Frequent (79-30%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Frequent (79-30%) |
| HP:0100585 | Telangiectasia of the skin | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000979 | Purpura | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001541 | Ascites | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0005306 | Capillary hemangioma | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
| HP:0100545 | Arterial stenosis | Occasional (29-5%) |
| HP:0100555 | Asymmetric growth | Occasional (29-5%) |
| HP:0100627 | Displacement of the urethral meatus | Occasional (29-5%) |
| HP:0100814 | Blue nevus | Occasional (29-5%) |
Total: 52
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 19 |
| HP:0000965 | Cutis marmorata | 11 |
| HP:0001009 | Telangiectasia | 8 |
| HP:0001052 | Nevus flammeus | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001548 | Overgrowth | 3 |
| HP:0025104 | Capillary malformation | 3 |
| HP:0000047 | Hypospadias | 2 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000501 | Glaucoma | 2 |
| HP:0000541 | Retinal detachment | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001159 | Syndactyly | 2 |
| HP:0001528 | Hemihypertrophy | 2 |
| HP:0001770 | Toe syndactyly | 2 |
| HP:0100556 | Hemiatrophy | 2 |
| HP:0000076 | Vesicoureteral reflux | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0001025 | Urticaria | 1 |
| HP:0001048 | Cavernous hemangioma | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001382 | Joint hypermobility | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0006521 | Pulmonary lymphangiectasia | 1 |
| HP:0007917 | Tractional retinal detachment | 1 |
| HP:0008094 | Widely spaced toes | 1 |
| HP:0008404 | Nail dystrophy | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0011510 | Drusen | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0012151 | Hemothorax | 1 |
| HP:0012733 | Macule | 1 |
| HP:0012855 | Scrotal hyperpigmentation | 1 |
| HP:0025105 | Nevus anemicus | 1 |
| HP:0031273 | Shock | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100555 | Asymmetric growth | 1 |
| HP:0100559 | Lower limb asymmetry | 1 |