eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemifacial atrophy, progressive | ||||
| Disease ID | 1656 |
|---|---|
| Disease | hemifacial atrophy, progressive |
| Definition | A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes. |
| Synonym | atrophies, hemifacial atrophies, progressive hemifacial atrophy of half of face atrophy of one side of the face atrophy, hemifacial atrophy, hemifacial, romberg atrophy, progressive hemifacial atrophy, romberg hemi-facial decrease in size of half of face decrease in size of one side of the face disease, parry-romberg disease, romberg disease, romberg's face, hemiatrophy, progressive facial hemiatrophies facial hemiatrophies, progressive facial hemiatrophy facial hemiatrophy (disorder) facial hemiatrophy [disease/finding] facial hemiatrophy of romberg facial hemiatrophy, progressive facial trophoneurosis facial-hemiatrophy (disorder) facial-hemiatrophy -retired- hemi-facial atrophy, romberg hemiatrophies, facial hemiatrophies, progressive facial hemiatrophy, facial hemiatrophy, progressive facial hemifacial atrophies hemifacial atrophy hemifacial atrophy romberg hfa parry romberg disease parry romberg syndrome parry rombergs syndrome parry rombery dis parry-romberg disease parry-romberg syndrome progressive facial hemiatrophies progressive facial hemiatrophy progressive hemifacial atrophies progressive hemifacial atrophy progressive hemifacial atrophy (disorder) romberg dis romberg disease romberg facial hemiatrophy romberg hemi facial atrophy romberg hemi-facial atrophy romberg syndrome romberg's disease romberg's syndrome romberg's trophoneurosis rombergs dis rombergs disease shrinking of half of face shrinking of one side of the face syndrome, parry-romberg |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0015458 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0036420 | localized scleroderma | 2 C0042165 | anterior uveitis | 1 C0002170 | alopecia | 1 C0015458 | hemifacial atrophy | 1 C0042164 | uveitis | 1 C0035333 | retinitis | 1 C0035334 | retinitis pigmentosa | 1 C0152021 | congenital heart disease | 1 C0011644 | scleroderma | 1 C0013903 | ellis-van creveld syndrome | 1 C0011570 | depression | 1 C0018799 | heart disease | 1 C0015458 | parry-romberg syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | (Waiting for update.) |
| Disease ID | 1656 |
|---|---|
| Disease | hemifacial atrophy, progressive |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0000324 | Asymmetry of face | 3 HP:0012531 | Pain | 2 HP:0011331 | Atrophy of one side of the face | 2 HP:0100022 | Movement disorder | 1 HP:0000554 | Uveitis | 1 HP:0001297 | Cerebral vascular events | 1 HP:0001596 | Hair loss | 1 HP:0000752 | Hyperactive behavior | 1 HP:0012049 | Spasmodic dysphonia | 1 HP:0001274 | Absent corpus callosum | 1 HP:0001695 | Cardiac arrest | 1 HP:0002514 | Intracranial calcifications | 1 HP:0012122 | Anterior uveitis | 1 HP:0001618 | Dysphonia | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0001335 | Bimanual synkinesia | 1 HP:0100324 | Progressive systemic scleroderma | 1 HP:0000716 | Depression | 1 HP:0010828 | Hemifacial spasm | 1 HP:0002140 | Ischemic stroke | 1 |
| Disease ID | 1656 |
|---|---|
| Disease | hemifacial atrophy, progressive |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total 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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1656 |
|---|---|
| Disease | hemifacial atrophy, progressive |
| Case | (Waiting for update.) |