| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (30.8%) |
17910675 |
Hay-Wells syndrome in a child with mutation in the TP73L gene. Garcia Bartels N, Neumann LM, Mleczko A, Rubach K, Peters H, Rossi R, Sterry W, Blume-Peytavi U. J Dtsch Dermatol Ges. 2007;5(10):919-23. |
| Ankyloblepharon | ||
| c|SUB|C|1610|T;RS#:747808524 | ||
| Cleft Palate DNA-Binding Proteins Ectodermal Dysplasia Genetic Predisposition to Disease Homo sapiens Infant Male Mutation Syndrome Trans-Activators Tumor Suppressor Proteins | ||
| 1 (30.8%) |
15347331 |
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. Sahin MT, Turel-Ermertcan A, Chan I, McGrath JA, Ozturkcan S. Clin Exp Dermatol. 2004;29(5):486-8. |
| Hypohidrosis Ankyloblepharon | ||
| TP63 | ||
| Child Ectodermal Dysplasia Females Hair Homo sapiens Nails, Malformed Syndrome | ||
| 1 (30.8%) |
10886756 |
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. Bertola DR, Kim CA, Sugayama SM, Albano LM, Utagawa CY, Gonzalez CH. Pediatr Dermatol. 2000;17(3):218-21. |
| Ankyloblepharon | ||
| rs121908845 | ||
| Child, Preschool Choanal Atresia Ectodermal Dysplasia Homo sapiens Male Phenotype Syndrome | ||
| 4 (4.0%) |
28940926 |
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. Busa T, Jeraiby M, Clemenson A, Manouvrier S, Granados V, Philip N, Touraine R. Am J Med Genet A. 2017;173(11):3114-3117. |
| Nail dysplasia | ||
| rs199835696 | ||
| Child, Preschool Cleft Palate Exome Eye Abnormalities Eyelid Diseases Females Fetus Hair Diseases Homo sapiens Homozygote Infant, Newborn Knee Language Development Disorders Male Mutation Nails, Malformed Protein-Serine-Threonine Kinases Syndactyly |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002164 | Nail dysplasia | Very frequent (99-80%) |
| HP:0002212 | Curly hair | Very frequent (99-80%) |
| HP:0009755 | Ankyloblepharon | Very frequent (99-80%) |
| HP:0000072 | Hydroureter | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000190 | Abnormal oral frenulum morphology | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000958 | Dry skin | Frequent (79-30%) |
| HP:0000966 | Hypohidrosis | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0002710 | Commissural lip pit | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0006349 | Agenesis of permanent teeth | Frequent (79-30%) |
| HP:0010297 | Bifid tongue | Frequent (79-30%) |
| HP:0030011 | Imperforate hymen | Frequent (79-30%) |
| HP:0100750 | Atelectasis | Frequent (79-30%) |
| HP:0200160 | Agenesis of maxillary incisor | Frequent (79-30%) |
| HP:0004704 | Short fifth metatarsal | Occasional (29-5%) |
| HP:0001270 | Motor delay | Excluded (0%) |
| HP:0200041 | Skin erosion | Excluded (0%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002164 | Nail dysplasia | 1 |