PedAM
Pediatric Disease Annotations & Medicines
| hip dysplasia, beukes type | ||||
| Disease ID | 1889 |
|---|---|
| Disease | hip dysplasia, beukes type |
| Definition | A primary bone dysplasia with characteristics of premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis and joint space narrowing. |
| Synonym | beukes familial hip dysplasia beukes hip dysplasia bfhd cilliers beighton syndrome hip dysplasia beukes type hip dysplasia beukes type (disorder) osteoarthropathy, premature degenerative, of hip premature degenerative osteoarthropathy of hip |
| Orphanet | |
| OMIM | |
| UMLS | C1840572 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) UFSP2 | 4q35.1 |
| Disease ID | 1889 |
|---|---|
| Disease | hip dysplasia, beukes type |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0001385 | Congenital hip dysplasia HP:0002808 | Kyphosis HP:0008783 | Wide metaphysis of innermost thighbone HP:0005743 | Perthes-like femoral head changes HP:0001385 | Hip dysplasia HP:0002650 | Scoliosis HP:0006429 | Broad femoral neck HP:0002758 | Osteoarthritis HP:0011849 | Abnormal bone ossification HP:0005041 | Irregular capital femoral epiphysis HP:0002812 | Coxa vara HP:0003370 | Flat capital femoral epiphyses HP:0010574 | Abnormality of the epiphysis of the femoral head HP:0003182 | Shallow acetabulae HP:0009107 | Abnormal ossification involving the femoral head and neck HP:0004348 | Abnormality of bone mineral density HP:0006429 | Broadening of femoral neck HP:0005930 | Abnormality of epiphysis morphology |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1889 |
|---|---|
| Disease | hip dysplasia, beukes type |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004348 | Abnormality of bone mineral density | MP:0000133 | abnormal long bone metaphysis morphology; | |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002758 | Osteoarthritis | MP:0000013 | abnormal adipose tissue distribution;HP:0004348 | Abnormality of bone mineral density |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |