| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.8%) |
19358387 |
Hyalinosis cutis et mucosae: diagnosis based on oral manifestations--report of a case. Xanthinaki AA, Donta C, Gatou V, Tsichlakis C. J Clin Pediatr Dent. 2008;33(2):171-4. |
| Loss of eyelashes Scarring | ||
| Homo sapiens Hyalin Substance Lipoid Proteinosis of Urbach and Wiethe Male Mouth Diseases | ||
| 2 (38.4%) |
3950140 |
Lipoid proteinosis with pseudomembranous conjunctivitis. Barthelemy H, Mauduit G, Kanitakis J, Cambazard F, Thivolet J. J Am Acad Dermatol. 1986;14(2 Pt 2):367-71. |
| Conjunctivitis Atrophic scars | ||
| Child Conjunctivitis Hoarseness Homo sapiens Infant Lipoid Proteinosis of Urbach and Wiethe Lipoidosis Male | ||
| 3 (30.8%) |
26572181 |
[Lipoid proteinosis (Urbach-Wiethe's Disease)]. Karaman H, Soyuer I, Kulahc , Tatlsen N. Kulak Burun Bogaz Ihtis Derg. 2015;25(6):357-60. |
| Blepharitis | ||
| Adult Biopsy Females Hoarseness Homo sapiens Lipoid Proteinosis of Urbach and Wiethe | ||
| 3 (30.8%) |
20559639 |
[Micronodular thickening of eyelid margins. Initial findings of a general disease]. Huchzermeyer C, irkovic A, Holbach L. Ophthalmologe. 2010;107(10):956-9. |
| Blepharitis | ||
| Blepharitis Child Differential Diagnosis Homo sapiens Lipoid Proteinosis of Urbach and Wiethe Male | ||
| 5 (30.8%) |
8305758 |
Specific xerostomia during Urbach-Wiethe disease. Disdier P, Harle JR, Andrac L, Swiader L, Weiller PJ. Dermatology. 1994;188(1):50-1. |
| Xerostomia Keratoconjunctivitis sicca | ||
| Biopsy Females Homo sapiens Lipoid Proteinosis of Urbach and Wiethe Middle Aged Salivary Glands Xerophthalmia Xerostomia | ||
| 6 (29.4%) |
17519670 |
Nasolacrimal duct obstruction with Urbach-Wiethe syndrome. Ostrovsky A, Mills DM, Farber M, Meyer DR. Ophthalmic Plast Reconstr Surg. 2007;23(3):240-1. |
| Nasolacrimal duct obstruction | ||
| Aged, 80 and over Dacryocystorhinostomy Females Homo sapiens Lacrimal Duct Obstruction Lipoid Proteinosis of Urbach and Wiethe | ||
| 7 (27.8%) |
26207694 |
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. Krasuska-Slawinska E, Polnik D, Rokicki D, Koeber B. J Oral Maxillofac Surg. 2015;73(10):1962.e1-5. |
| Gingival overgrowth | ||
| ANTXR2 | ||
| Child Gingiva Homo sapiens Hyalinosis, Systemic Male | ||
| 8 (27.7%) |
19913335 |
A case of oral recurrent ulcerative lesions in a patient with lipoid proteinosis (Urbach-Wiethe disease). Sargenti Neto S, Batista JD, Durighetto AF Jr. Br J Oral Maxillofac Surg. 2010;48(8):654-5. |
| Xerostomia | ||
| Adult Aphthous Stomatitis Females Follow-Up Studies Homo sapiens Lip Diseases Lipoid Proteinosis of Urbach and Wiethe Tongue Diseases Xerostomia | ||
| 9 (20.4%) |
17199583 |
A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. Uchida T, Hayashi H, Inaoki M, Miyamoto T, Fujimoto W. Br J Dermatol. 2007;156(1):152-7. |
| Calcinosis cutis | ||
| ECM1 LYVE1 PECAM1 | ||
| c|DEL|507|T;RS#:869025565 rs869025565 | ||
| Adult Calcinosis Extracellular Matrix Proteins Females Homo sapiens Lipoid Proteinosis of Urbach and Wiethe Lymphangiogenesis Vesicular Transport Proteins | ||
| 10 (17.5%) |
30099970 |
The management of laryngeal lipoid proteinosis. Ally M, Kinshuck AJ, Sandison A, Sandhu GS. J Laryngol Otol. 2018;132(10):936-939. |
| Dysphonia Scarring | ||
| Adult Differential Diagnosis Dysphonia Females Hoarseness Homo sapiens Hyalin Substance Laryngoscopy Laser Therapy Lipoid Proteinosis of Urbach and Wiethe Male Middle Aged Mucous Membrane |
Total: 23
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000168 | Abnormality of the gingiva | Very frequent (99-80%) |
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000199 | Tongue nodules | Very frequent (99-80%) |
| HP:0001061 | Acne | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Very frequent (99-80%) |
| HP:0001482 | Subcutaneous nodule | Very frequent (99-80%) |
| HP:0001609 | Hoarse voice | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0011830 | Abnormal oral mucosa morphology | Very frequent (99-80%) |
| HP:0100699 | Scarring | Very frequent (99-80%) |
| HP:0200034 | Papule | Very frequent (99-80%) |
| HP:0200039 | Pustule | Very frequent (99-80%) |
| HP:0000171 | Microglossia | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000962 | Hyperkeratosis | Frequent (79-30%) |
| HP:0001332 | Dystonia | Frequent (79-30%) |
| HP:0002015 | Dysphagia | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0200043 | Verrucae | Frequent (79-30%) |
| HP:0200115 | None | Frequent (79-30%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0100582 | Nasal polyposis | Occasional (29-5%) |
Total: 19
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100699 | Scarring | 10 |
| HP:0200034 | Papule | 7 |
| HP:0001618 | Dysphonia | 3 |
| HP:0001609 | Hoarse voice | 2 |
| HP:0002098 | Respiratory distress | 2 |
| HP:0000217 | Xerostomia | 1 |
| HP:0000498 | Blepharitis | 1 |
| HP:0000509 | Conjunctivitis | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000579 | Nasolacrimal duct obstruction | 1 |
| HP:0000962 | Hyperkeratosis | 1 |
| HP:0001056 | Milia | 1 |
| HP:0001132 | Lens subluxation | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002076 | Migraine | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0025269 | Panic attack | 1 |
| HP:0025615 | Abscess | 1 |