| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.3%) |
9066880 |
Acampomelic campomelic dysplasia: further radiographic variations. Glass RB, Rosenbaum KN. Am J Med Genet. 1997;69(1):29-32. |
| Shallow orbits Hypoplastic scapulae | ||
| rs1425166755 rs1555629165 | ||
| Bone and Bones Females Homo sapiens Infant Infant, Newborn Osteochondrodysplasias | ||
| 2 (59.9%) |
30012910 |
Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies. Morozumi K, Ainoya K, Takemoto J, Sakai K. Tohoku J Exp Med. 2018;245(3):187-191. |
| Pierre-Robin sequence 11 pairs of ribs | ||
| SOX9 | ||
| Child Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 2 Females Homo sapiens Hormones | ||
| 3 (59.2%) |
17185244 |
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC. J Formos Med Assoc. 2006;105(12):1013-6. |
| Micrognathia Tibial bowing Prominent forehead | ||
| SOX9 SRY | ||
| c|SUB|G|1095|AT | ||
| Disorders of Sex Development Females High Mobility Group Proteins Homo sapiens Infant, Newborn Male Osteochondrodysplasias SOX9 Transcription Factor | ||
| 4 (58.5%) |
12017234 |
A case of acampomelic campomelic dysplasia. Ozkilic A, Seven M, Yuksel A. Genet Couns. 2002;13(1):23-8. |
| Hypoplastic scapulae Flat face | ||
| Child, Preschool Dwarfism Homo sapiens Infant, Newborn Male Respiratory Distress Syndrome, Newborn Syndrome | ||
| 5 (57.8%) |
30662210 |
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report. Basani L, Aepala R, Macha N. Indian J Radiol Imaging. 2018;28(4):456-459. |
| Macrocephaly Micrognathia | ||
| 5 (57.8%) |
27833291 (5053001) |
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. Pasupathy M, Radhakrishnan V, Adenwalla HS, Narayanan PV. Indian J Plast Surg. 2016;49(2):253-257. |
| Macrocephaly Micrognathia | ||
| SOX9 | ||
| 5 (57.8%) |
21218044 (3012840) |
A case of campomelic dysplasia without sex reversal. Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA. J Korean Med Sci. 2011;26(1):143-5. |
| Macrocephaly Micrognathia | ||
| SOX9 | ||
| p|FS|Q|458|R|12 | ||
| Disorders of Sex Development Homo sapiens Infant Male Respiratory Insufficiency SOX9 Transcription Factor Sequence Analysis, DNA | ||
| 8 (49.9%) |
10998449 |
Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes. Courtens W, De laet C, Ziereisen F, Vamos E, Mortier G. Ann Genet. 2000;43(2):81-8. |
| Short neck Elbow dislocation | ||
| INS | ||
| Adult Diabetes Mellitus, Insulin-Dependent Differential Diagnosis Females Gestational Diabetes Homo sapiens Infant, Newborn Leg Bones Male Middle Aged Pregnancy Pregnancy in Diabetics | ||
| 9 (43.2%) |
26078652 |
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. Karaer K, Yuksel Z, Yalnbas E, Scherer G. Turk Pediatri Ars. 2014;49(2):154-6. |
| Hypoplastic scapulae | ||
| SOX9 | ||
| c|SUB|C|473|T p|SUB|A|158|V | ||
| 9 (43.2%) |
24821304 |
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C. Eur J Med Genet. 2014;57(7):315-8. |
| Hypoplastic scapulae | ||
| SOX9 | ||
| Chromosome Breakpoints Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Females Homo sapiens Infant 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 |