| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
9068748 |
Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. Chen CP, Chen HC, Liu FF, Jan SW, Chern SR, Wang TY, Hung HY. Br J Dermatol. 1997;136(2):267-71. |
| Micrognathia | ||
| AFP CGA | ||
| Adult Ascites Females Fetal Diseases Homo sapiens Infant, Newborn Male Pregnancy Telangiectasis | ||
| 2 (50.0%) |
11477607 |
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Yano S, Watanabe Y. Am J Med Genet. 2001;102(2):149-52. |
| Macrocephaly Toe syndactyly Frontal bossing | ||
| Cardiac Arrhythmia Craniofacial Abnormalities Females Growth Disorders Homo sapiens Infant Male Skin Abnormalities Syndactyly Syndrome Telangiectasis | ||
| 2 (50.0%) |
10710221 |
Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata? Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L. Am J Med Genet. 2000;90(4):265-9. |
| Macrocephaly High forehead Cutaneous syndactyly | ||
| Females Homo sapiens Magnetic Resonance Imaging Male Syndactyly Telangiectasis | ||
| 4 (48.8%) |
28018470 (5177701) |
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS. Korean J Pediatr. 2016;59(Suppl 1):S152-S156. |
| Macrocephaly Syndactyly | ||
| 4 (48.8%) |
22884750 |
[Macrocephaly-capillary malformation. A neonatal case]. Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P. Arch Pediatr. 2012;19(9):917-20. |
| Macrocephaly Syndactyly | ||
| Females Homo sapiens Infant, Newborn Macrocephaly Skin Diseases, Vascular Telangiectasis | ||
| 4 (48.8%) |
19706101 |
Macrocephaly-capillary malformation: a report of three cases and review of the literature. Gonzalez ME, Burk CJ, Barbouth DS, Connelly EA. Pediatr Dermatol. 2009;26(3):342-6. |
| Macrocephaly Syndactyly | ||
| Child Child, Preschool Craniofacial Abnormalities Developmental Disabilities Homo sapiens Male Skin Diseases, Vascular Syndrome Telangiectasis | ||
| 4 (48.8%) |
16733449 |
[Macrocephaly-cutis marmorata telangiectatica congenita]. Girard C, Bessis D, Guillot B. Ann Dermatol Venereol. 2006;133(4):349-52. |
| Macrocephaly Syndactyly | ||
| Head Homo sapiens Infant Intellectual Disability Male Syndrome Telangiectasis | ||
| 4 (48.8%) |
15368495 |
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Lapunzina P, Gairi A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL. Am J Med Genet A. 2004;130A(1):45-51. |
| Macrocephaly Syndactyly | ||
| SMG1 | ||
| Child Child, Preschool Craniofacial Abnormalities Females Homo sapiens Infant Intellectual Disability Male Syndrome Telangiectasis | ||
| 4 (48.8%) |
15337471 |
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features. Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR. Ann Genet. 2004;47(3):261-5. |
| Macrocephaly Toe syndactyly | ||
| Aneurysm Atrial Septal Defects Craniofacial Abnormalities Fatal Outcome Hemangioma Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Skin Abnormalities Skull Neoplasms Telangiectasis Toes | ||
| 4 (48.8%) |
15039980 |
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N. Am J Med Genet A. 2004;126A(1):99-103. |
| Macrocephaly Toe syndactyly | ||
| Adult Brain Child Child, Preschool Craniofacial Abnormalities Fatal Outcome Females Homo sapiens Infant Infant, Newborn Intellectual Disability Magnetic Resonance Imaging Male Skin Abnormalities Syndactyly Syndrome 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 |