| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 9 (43.2%) |
12151884 |
Orthopaedic manifestations of campomelic dysplasia. Khoshhal K, Letts RM. Clin Orthop Relat Res. 2002;(401):65-74. |
| Hypoplastic scapulae | ||
| Bone and Bones Congenital Dysplasia Of The Hip Dwarfism Females Homo sapiens Infant, Newborn | ||
| 9 (43.2%) |
10976487 |
Prenatal diagnosis of campomelic dysplasia. Tongsong T, Wanapirak C, Pongsatha S. Ultrasound Obstet Gynecol. 2000;15(5):428-30. |
| Hypoplastic scapulae | ||
| Adult Bone and Bones Females Fetal Diseases Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 13 (39.2%) |
23564514 |
Acampomelic form of campomelic dysplasia with SOX9 missense mutation. Gopakumar H, Superti-Furga A, Unger S, Scherer G, Rajiv PK, Nampoothiri S. Indian J Pediatr. 2014;81(1):98-100. |
| Pierre-Robin sequence Skeletal dysplasia | ||
| SOX9 | ||
| Homo sapiens Infant, Newborn Male Missense Mutation SOX9 Transcription Factor | ||
| 14 (39.0%) |
28965976 |
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. Matsumoto A, Imagawa E, Miyake N, Ikeda T, Kobayashi M, Goto M, Matsumoto N, Yamagata T, Osaka H. Brain Dev. 2018;40(4):325-329. |
| Macrocephaly | ||
| SOX9 | ||
| c|SUB|A|236|C p|SUB|Q|79|P rs1425166755 rs1555629165 | ||
| Child, Preschool Corpus Callosum Homo sapiens Organ Size SOX9 Transcription Factor | ||
| 14 (39.0%) |
26454757 |
[Cloverleaf skull and bilateral facial clefts]. Alvarez-Manassero D, Manassero-Morales G. Rev Chil Pediatr. 2015;86(5):357-60. |
| Macrocephaly | ||
| Cleft Palate Craniosynostosis Females Homo sapiens Hydrocephalus Infant | ||
| 16 (35.3%) |
20453475 |
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Jakubiczka S, Schroder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P. Sex Dev. 2010;4(3):143-9. |
| Gonadal dysgenesis Brachydactyly | ||
| PRKAR1A SOX9 STS | ||
| Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 7 Disorders of Sex Development Females Homo sapiens Infant, Newborn Male SOX9 Transcription Factor Sequence Deletion | ||
| 17 (32.7%) |
23551858 |
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia. Tonni G, Ventura A, Pattacini P, Bonasoni MP, Baffico AM. J Obstet Gynaecol Res. 2013;39(5):1085-91. |
| Bowing of the long bones | ||
| SOX9 | ||
| p|SUB|H|165|P | ||
| Abortion, Eugenic Adult Amino Acid Substitution Chorionic Villi Sampling Females Homo sapiens Missense Mutation Pregnancy Pregnancy Trimester, First SOX9 Transcription Factor Ultrasonography, Prenatal | ||
| 17 (32.7%) |
20812307 |
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F. Ultrasound Obstet Gynecol. 2010;36(3):315-23. |
| Skeletal dysplasia Bowing of the long bones | ||
| SOX9 | ||
| Adult Females Genetic Counseling Genotype Gestational Age Homo sapiens Phenotype Point Mutation Pregnancy Pregnancy Trimester, First SOX9 Transcription Factor Ultrasonography, Prenatal Young Adult | ||
| 17 (32.7%) |
17204049 |
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Clin Genet. 2007;71(1):67-75. |
| Cryptorchidism Tibial bowing | ||
| SOX9 | ||
| Base Sequence Bone Diseases, Developmental Chromosomes, Human, Pair 17 Females Fluorescent in Situ Hybridization High Mobility Group Proteins Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data SOX9 Transcription Factor Sequence Analysis, DNA | ||
| 17 (32.7%) |
12687888 |
Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Savarirayan R, Robertson SP, Bankier A, Rogers JG. Pediatr Pathol Mol Med. 2003;22(1):37-46. |
| Bowing of the long bones | ||
| SOX9 | ||
| Child, Preschool Disorders of Sex Development Females High Mobility Group Proteins Homo sapiens Infant Infant, Newborn Male Middle Aged Mosaicism Osteochondrodysplasias SOX9 Transcription Factor |
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000878 | 11 pairs of ribs | Very frequent (99-80%) |
| HP:0001601 | Laryngomalacia | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002757 | Recurrent fractures | Very frequent (99-80%) |
| HP:0002779 | Tracheomalacia | Very frequent (99-80%) |
| HP:0002786 | Tracheobronchomalacia | Very frequent (99-80%) |
| HP:0002827 | Hip dislocation | Very frequent (99-80%) |
| HP:0002982 | Tibial bowing | Very frequent (99-80%) |
| HP:0003026 | Short long bone | Very frequent (99-80%) |
| HP:0003038 | Fibular hypoplasia | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0006584 | Small abnormally formed scapulae | Very frequent (99-80%) |
| HP:0008477 | Poorly ossified cervical vertebrae | Very frequent (99-80%) |
| HP:0008821 | Hypoplastic inferior ilia | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000037 | Male pseudohermaphroditism | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002980 | Femoral bowing | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0010781 | Skin dimple | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0004408 | Abnormality of the sense of smell | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0007036 | Hypoplasia of olfactory tract | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012245 | Sex reversal | 24 |
| HP:0002652 | Skeletal dysplasia | 11 |
| HP:0000201 | Pierre-Robin sequence | 4 |
| HP:0006487 | Bowing of the long bones | 4 |
| HP:0000882 | Hypoplastic scapulae | 3 |
| HP:0002786 | Tracheobronchomalacia | 2 |
| HP:0005659 | Thoracic kyphoscoliosis | 2 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000133 | Gonadal dysgenesis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000878 | 11 pairs of ribs | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002980 | Femoral bowing | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010444 | Pulmonary insufficiency | 1 |
| HP:0010459 | True hermaphroditism | 1 |
| HP:0012368 | Flat face | 1 |