| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
25251940 |
Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. Aslan D, Akata RF, Schroder J, Happle R, Moog U, Bartsch O. Am J Med Genet A. 2014;164A(11):2947-51. |
| Enlarged cisterna magna | ||
| Brain Child, Preschool Dermoid Cyst Ectodermal Dysplasia Homo sapiens Magnetic Resonance Imaging Male Phenotype Skin | ||
| 2 (17.5%) |
29923968 |
Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome. Shoji MK, Saeed HN, Habib LA, Freitag SK. Ophthalmic Plast Reconstr Surg. 2018;34(4):e133-e136. |
| Umbilical hernia | ||
| KRAS | ||
| Alopecia Dermoid Cyst Ectodermal Dysplasia Eye Neoplasms Females Homo sapiens Infant, Newborn | ||
| 3 (4.0%) |
28300929 (5325028) |
Oculoectodermal syndrome: twentieth described case with new manifestations. Figueiras DA, Leal DM, Kozmhinsky V, Querino MC, Regueira MG, Studart MG. An Bras Dermatol. 2016;91(5 suppl 1):160-162. |
| Hemangioma | ||
| Child, Preschool Conjunctival Diseases Corneal Diseases Dermoid Cyst Ectodermal Dysplasia Females Hemangioma Homo sapiens Skin Skin Neoplasms | ||
| 3 (4.0%) |
27192894 |
OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS. Mermer S, Kayhan G, Karacelebi E, Percin FE. Genet Couns. 2016;27(1):77-81. |
| Fibroma | ||
| Child, Preschool Dermoid Cyst Ectodermal Dysplasia Giant Cell Granuloma Homo sapiens Jaw Male | ||
| 3 (4.0%) |
25808193 |
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. Peacock JD, Dykema KJ, Toriello HV, Mooney MR, Scholten DJ 2nd, Winn ME, Borgman A, Duesbery NS, Hiemenga JA, Liu C, Campbell S, Nickoloff BP, Williams BO, Steensma M. Am J Med Genet A. 2015;167(7):1429-35. |
| Ossifying fibroma | ||
| KRAS | ||
| c|SUB|G|38|A;RS#:112445441 c|SUB|G|57|C;RS#:121913538 p|SUB|G|13|D;RS#:112445441 p|SUB|L|19|F;RS#:121913538 rs112445441 rs121913538 | ||
| Base Sequence Child Child, Preschool Corneal Diseases Dermoid Cyst Ectodermal Dysplasia Ectopic Tissue Females Gene Frequency Genome, Human Growth Disorders Homo sapiens Male Missense Mutation Molecular Sequence Data Proto-Oncogene Proteins p21(ras) Sequence Analysis, DNA | ||
| 3 (4.0%) |
25745601 (4344985) |
Oculo-ectodermal syndrome: A case report and further delineation of the syndrome. Habib F, Elsaid MF, Salem KY, Ibrahim KO, Mohamed K. Qatar Med J. 2014;2014(2):114-22. |
| Coloboma | ||
| 3 (4.0%) |
16272058 |
A new case of oculoectodermal syndrome. Lee TK, Johnson RL, MacDonald IM, Krol AL, Bamforth JS. Ophthalmic Genet. 2005;26(3):131-3. |
| Coloboma | ||
| Dermoid Cyst Ectodermal Dysplasia Eye Neoplasms Females Homo sapiens Infant Pupil Disorders Retinitis Pigmentosa Syndrome |
Total: 36
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000502 | Abnormal conjunctiva morphology | Very frequent (99-80%) |
| HP:0001140 | Limbal dermoid | Very frequent (99-80%) |
| HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
| HP:0001331 | Absent septum pellucidum | Very frequent (99-80%) |
| HP:0007440 | Generalized hyperpigmentation | Very frequent (99-80%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Very frequent (99-80%) |
| HP:0012639 | Abnormality of nervous system morphology | Very frequent (99-80%) |
| HP:0000069 | Abnormality of the ureter | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0000598 | Abnormality of the ear | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001626 | Abnormality of the cardiovascular system | Frequent (79-30%) |
| HP:0002251 | Aganglionic megacolon | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0008749 | Laryngeal hypoplasia | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0012745 | Short palpebral fissure | Frequent (79-30%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Frequent (79-30%) |
| HP:0000014 | Abnormality of the bladder | Occasional (29-5%) |
| HP:0000036 | Abnormality of the penis | Occasional (29-5%) |
| HP:0000039 | Epispadias | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000625 | Eyelid coloboma | Occasional (29-5%) |
| HP:0001999 | Abnormal facial shape | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001537 | Umbilical hernia | 1 |
| HP:0032252 | Granuloma | 1 |