| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
18304160 |
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. Boente Mdel C, Asial RA, Happle R. Pediatr Dermatol. 2008;25(1):76-80. |
| Hypertension Hemiatrophy | ||
| Aortic Valve Stenosis Disease Progression Follow-Up Studies Homo sapiens Male Melanosis Neurocutaneous Syndromes Severity of Illness Index | ||
| 1 (45.7%) |
11358015 |
Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature. Kopniczky Z, Kobor J, Maraz A, Vajtai I. Pathol Res Pract. 2001;197(4):279-84. |
| Seizure Hemiatrophy | ||
| Astrocytoma Child Epilepsy Females Glial Fibrillary Acidic Protein Hamartoma Homo sapiens Immunohistochemistry Sebaceous Gland Neoplasms Sebaceous Glands Supratentorial Neoplasms Syndrome | ||
| 3 (39.6%) |
16598983 |
Atypical oculo-orbital complex choristoma in organoid nevus syndrome. Pushker N, Mehta M, Bajaj MS, Sen S, Ghose S. J Pediatr Ophthalmol Strabismus. 2006;43(2):119-22. |
| Coloboma Upper eyelid coloboma | ||
| Calcinosis Child Ectopic Tissue Homo sapiens Male Neurocutaneous Syndromes Strabismus X-Ray Computed Tomography | ||
| 4 (39.0%) |
12823300 |
Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M. Clin Exp Dermatol. 2003;28(4):387-90. |
| Cranial asymmetry | ||
| Biopsy Conjunctival Diseases Differential Diagnosis Eyelid Diseases Females Hamartoma Syndrome, Multiple Homo sapiens Infant, Newborn Lipomatosis Magnetic Resonance Imaging Neurocutaneous Syndromes Scalp Dermatoses | ||
| 4 (39.0%) |
4054172 |
Neuroradiological findings in Jadassohn nevus phakomatosis: a report of four cases. Vles JS, Degraeuwe P, De Cock P, Casaer P. Eur J Pediatr. 1985;144(3):290-4. |
| Skull asymmetry | ||
| Child, Preschool Females Head and Neck Neoplasms Homo sapiens Infant, Newborn Male Syndrome X-Ray Computed Tomography | ||
| 4 (39.0%) |
3977653 |
Neurologic manifestations of the organoid nevus syndrome. Clancy RR, Kurtz MB, Baker D, Sladky JT, Honig PJ, Younkin DP. Arch Neurol. 1985;42(3):236-40. |
| Macrocephaly | ||
| Brain Brain Diseases Electroencephalography Epilepsy Females Hamartoma Homo sapiens Infant, Newborn Intellectual Disability Male Nevus Skin Neoplasms X-Ray Computed Tomography | ||
| 7 (29.4%) |
25772967 |
Ophthalmic manifestations of linear nevus sebaceous/organoid nevus syndrome. Kausar A, Zafar SN, Altaf S, Khan A. J Coll Physicians Surg Pak. 2015;25(3):220-2. |
| Limbal dermoid | ||
| Biopsy Child Choroid Neoplasms Ectopic Tissue Eye Abnormalities Females Hamartoma Homo sapiens Infant Male Nevus Sebaceus of Jadassohn Seizures | ||
| 8 (28.5%) |
10597363 |
Oral manifestations of Schimmelpenning syndrome: case report and review of literature. Murakami A, Skovby F, Andreasen JO, Cohen MM Jr, Jensen BL, Kreiborg S. Ann Acad Med Singapore. 1999;28(5):744-8. |
| Hemihypertrophy Bone cyst | ||
| Alopecia Child Child, Preschool Follow-Up Studies Gingival Hyperplasia Gingivectomy Hamartoma Homo sapiens Male Mouth Diseases Syndrome | ||
| 9 (22.8%) |
16843117 |
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. Gruson LM, Orlow SJ, Schaffer JV. J Am Acad Dermatol. 2006;55(2 Suppl):S16-20. |
| Hemihypertrophy | ||
| Embryonal Rhabdomyosarcoma Homo sapiens Hypertrophy Male Neurocutaneous Syndromes Skin Skin Neoplasms | ||
| 10 (21.2%) |
30129544 |
Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome. Tanigasalam V, Bhat BV, Manivannan S, Munisamy M, Parchand S. Indian Pediatr. 2018;55(7):601-602. |
| Choroidal neovascularization Osteoma | ||
| VEGFA | ||
| Choroid Neoplasms Females Homo sapiens Infant, Newborn Nevus Sebaceus of Jadassohn Osteoma |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000269 | Prominent occiput | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000612 | Iris coloboma | Very frequent (99-80%) |
| HP:0000995 | Melanocytic nevus | Very frequent (99-80%) |
| HP:0001048 | Cavernous hemangioma | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001315 | Reduced tendon reflexes | Very frequent (99-80%) |
| HP:0001347 | Hyperreflexia | Very frequent (99-80%) |
| HP:0001596 | Alopecia | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0002816 | Genu recurvatum | Very frequent (99-80%) |
| HP:0003422 | Vertebral segmentation defect | Very frequent (99-80%) |
| HP:0004422 | Biparietal narrowing | Very frequent (99-80%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Very frequent (99-80%) |
| HP:0009720 | Adenoma sebaceum | Very frequent (99-80%) |
| HP:0100555 | Asymmetric growth | Very frequent (99-80%) |
| HP:0000324 | Facial asymmetry | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0001357 | Plagiocephaly | Frequent (79-30%) |
| HP:0002132 | Porencephalic cyst | Frequent (79-30%) |
| HP:0007400 | Irregular hyperpigmentation | Frequent (79-30%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002664 | Neoplasm | 5 |
| HP:0003764 | Nevus | 4 |
| HP:0030731 | Carcinoma | 4 |
| HP:0010566 | Hamartoma | 2 |
| HP:0010815 | Nevus sebaceous | 2 |
| HP:0010816 | Epidermal nevus | 2 |
| HP:0025511 | Nevus sebaceus | 2 |
| HP:0000589 | Coloboma | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001290 | Generalized hypotonia | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0002390 | Spinal arteriovenous malformation | 1 |
| HP:0002671 | Basal cell carcinoma | 1 |
| HP:0010817 | Linear nevus sebaceous | 1 |
| HP:0025247 | Dermoid cyst | 1 |
| HP:0031111 | Cutaneous hamartoma | 1 |
| HP:0040270 | Impaired glucose tolerance | 1 |
| HP:0100246 | Osteoma | 1 |
| HP:0100556 | Hemiatrophy | 1 |
| HP:0100817 | Renovascular hypertension | 1 |