| Disease Browser
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Parent Node:
 Carcinoma, Squamous Cell (D002294) | Parent Node:
Keratoderma, Palmoplantar (D007645) | Parent Node:
Ovotesticular Disorders of Sex Development (D050090) | Parent Node:
Skin Neoplasms (D012878) | ..Starting node
.. PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
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Child Nodes:
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Sister Nodes: | ..Abdominal chemodectomas with cutaneous angiolipomas (C535552)
| ..Acanthoma (D049309)
| ..Bazex-Dupre-Christol syndrome (C537663)
| ..Becker Nevus Syndrome (C565735)
| ..Blue rubber bleb nevus syndrome (C536240)
| ..Calcifying Epithelial Odontogenic Tumor (C537961)
| ..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
| ..Collagenoma, Familial Cutaneous (C562925)
| ..Davenport Donlan syndrome (C535988)
| ..Dermatopathia pigmentosa reticularis (C535374)
| ..Familial cylindromatosis (C536611)
| ..Familial multiple trichodiscomas (C536847)
| ..Fanconi like syndrome (C536855)
| ..Giant pigmented hairy nevus (C536819)
| ..Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
| ..Histiocytosis, Progressive Mucinous (C564186)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
| ..Nevus, Epidermal (C562736)
| ..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
| ..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
| ..Papillomatosis, Familial Cutaneous (C566832)
| ..Phacomatosis pigmentokeratotica (C537893)
| ..Reactive angioendotheliomatosis (C535293)
| ..Reed's syndrome (C535516)
| ..Rombo syndrome (C535870)
| ..Schwannomatosis (C536641)
| ..Sclerotylosis (C537526)
| ..Sebaceous Gland Neoplasms (D012626)  2
| ..Sweat Gland Neoplasms (D013544)
| ..Trichoepithelioma, Multiple Familial, 2 (C567418)
| ..Trichoepitheliomas, Multiple Desmoplastic (C566034)
| ..Trichofolliculoma (C536553)
| ..Tufted angioma (C536924)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 8528 |
| Name: | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D002294|MESH:D007645|MESH:D012878|MESH:D050090 |
| TreeNumbers: | C04.557.470.200.400/610644 |C04.557.470.700.400/610644 |C04.588.805/610644 |C12.706.316.343/610644 |C13.351.875.253.343/610644 |C16.131.939.316.343/610644 |C16.320.850.475/610644 |C17.800.428.435/610644 |C17.800.827.475/610644 |C17.800.882/610644 |C19.391.119.343/ |
| Synonyms: | PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED |
| Slim Mappings: | Cancer|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Skin disease|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: 610644
MeSH: 610644
OMIM: 610644;
Genes: RSPO1; | | Phenotypes | | | Disease Causing ClinVar Variants | |
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