| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.4%) |
11746009 |
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A. Am J Med Genet. 2001;103(4):295-301. |
| Telecanthus Phocomelia | ||
| Adult Ectromelia Face Females Genes, Recessive Homo sapiens Infant, Newborn Male Pelvic Bones Syndrome Toes | ||
| 2 (49.1%) |
27638328 |
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus. Mutlu MB, Cetinkaya A, Koc N, Ceylaner G, Erguner B, Aydn H, Karaman S, Demirci O, Goksu K, Karaman A. Eur J Med Genet. 2016;59(11):604-606. |
| Humeroradial synostosis Short femur | ||
| c|SUB|C|304|T p|SUB|R|102|W | ||
| Amenorrhea Ectromelia Females Fetus Homo sapiens Missense Mutation Pelvic Bones Polydactyly Pregnancy Uterus Wnt Proteins | ||
| 3 (43.6%) |
23727605 |
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). AlQattan MM, AlAbdulkareem I, Ballow M, Al Balwi M. Gene. 2013;527(1):371-5. |
| Confusion Phocomelia | ||
| c|SUB|G|814|T p|SUB|R|292|C;RS#:104893835 | ||
| Amenorrhea Amino Acid Sequence Case-Control Studies DNA Mutational Analysis Differential Diagnosis Ectromelia Females Genetic Association Studies Homo sapiens Homozygote Infant, Newborn Missense Mutation Molecular Diagnostic Techniques Molecular Sequence Data Pelvic Bones Uterus Wnt Proteins | ||
| 3 (43.6%) |
21274338 (3005660) |
Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies. Alp E, Alp H, Atabek ME, Pirgon O. J Clin Res Pediatr Endocrinol. 2010;2(1):49-51. |
| Hypertelorism Phocomelia | ||
| Amenorrhea Ectromelia Homo sapiens Infant, Newborn Male Pelvic Bones Uterus | ||
| 5 (34.6%) |
8705200 |
Bilateral ulnar agenesis: case report and review of the literature. Bozner P, Blackburn W, Cooley NR Jr. Pediatr Pathol Lab Med. 1995;15(6):895-913. |
| Split hand | ||
| Face Females Fetal Diseases Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Syndrome | ||
| 6 (33.8%) |
15558579 |
A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome? Kantaputra PN, Tanpaiboon P. Am J Med Genet A. 2005;132A(1):63-7. |
| Humeroulnar synostosis | ||
| Child, Preschool Differential Diagnosis Homo sapiens Limb Deformities, Congenital Male Male Genital Organs Pelvis Syndrome | ||
| 7 (29.2%) |
17431918 |
Al-Awadi/Raas-Rothschild syndrome: two new cases and review. Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. Am J Med Genet A. 2007;143A(24):3169-74. |
| Hypoplastic pelvis | ||
| WNT7A | ||
| c|SUB|C|1179|T p|SUB|R|292|C;RS#:104893835 | ||
| Females Fetus Genes, Recessive Genetic Counseling Homo sapiens Limb Deformities, Congenital Male Pelvis Syndrome | ||
| 8 (27.8%) |
28917830 |
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. Kantaputra PN, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, Ketudat Cairns JR. Eur J Med Genet. 2017;60(12):695-700. |
| Hypodontia | ||
| AXIN2 EDA EDAR EDARADD GREM2 IKBKG KRT17 MSX1 PAX9 TFAP2B WNT10A | ||
| c|SUB|A|550|C p|SUB|N|184|D | ||
| Adult Amenorrhea Animals Child, Preschool Ectromelia Epithelium Homo sapiens Homozygote Male Missense Mutation Mus Pelvic Bones Tooth Abnormalities Uterus Wnt Proteins |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001180 | Hand oligodactyly | Very frequent (99-80%) |
| HP:0001849 | Foot oligodactyly | Very frequent (99-80%) |
| HP:0002164 | Nail dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0002990 | Fibular aplasia | Very frequent (99-80%) |
| HP:0002992 | Abnormality of tibia morphology | Very frequent (99-80%) |
| HP:0003498 | Disproportionate short stature | Very frequent (99-80%) |
| HP:0003982 | Aplasia of the ulna | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum | Very frequent (99-80%) |
| HP:0009103 | Aplasia/Hypoplasia involving the pelvis | Very frequent (99-80%) |
| HP:0100257 | Ectrodactyly | Very frequent (99-80%) |
| HP:0000151 | Aplasia of the uterus | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002984 | Hypoplasia of the radius | Frequent (79-30%) |
| HP:0002986 | Radial bowing | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0001362 | Calvarial skull defect | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002435 | Meningocele | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0003041 | Humeroradial synostosis | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001171 | Split hand | 1 |
| HP:0001839 | Split foot | 1 |
| HP:0008839 | Hypoplastic pelvis | 1 |
| HP:0009829 | Phocomelia | 1 |