Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Mastocytosis (HP:0100495)help
Parent Node:
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Neoplasm of the skin (HP:0008069)help
..Starting node
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Cutaneous mastocytosis (HP:0200151)help
Term ID: 200151
Name: Cutaneous mastocytosis
Synonym:
Definition: Multifocal dense infiltrates of mast cells in cutaneous tissue.
Comments:
Reference: HP:0200151
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) help
..expandBasal cell carcinoma (HP:0002671) help
..expandCutaneous angiolipomas (HP:0006773) help
..expandCutaneous leiomyoma (HP:0007620) help
..expandCutaneous leiomyosarcoma (HP:0006755) help
..expandCutaneous melanoma (HP:0012056) help
..expandCutaneous myxoma (HP:0030428) help
..expandEccrine syringofibroadenoma (HP:0031018) help
..expandFibrofolliculoma (HP:0030436) help
..expandFrontal cutaneous lipoma (HP:0007541) help
..expandKaposi's sarcoma (HP:0100726) help
..expandKeratoacanthoma (HP:0031525) help
..expandLymphocytoma cutis (HP:0031549) help
..expandMerkel cell skin cancer (HP:0030447) help
..expandMultiple cutaneous leiomyomas (HP:0007437) help
..expandMultiple cutaneous malignancies (HP:0007606) help
..expandMyxoid subcutaneous tumors (HP:0006769) help
..expandNeurofibromas (HP:0001067) help
..expandPapilloma (HP:0012740) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) help
..expandSquamous cell carcinoma (HP:0002860) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200151HP:0200151Cutaneous mastocytosis0KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosisHP:0040281 - Very frequent327
HP:0200151HP:0200151Cutaneous mastocytosis0KIT CL E G H38156342OMIM:154800Mastocytosis, cutaneous.327
HP:0200151HP:0200151Cutaneous mastocytosis0KIT CL E G H38156342ORPHA:280794Pseudoxanthomatous diffuse cutaneous mastocytosisHP:0040281 - Very frequent327


Genes (1) :KIT

Diseases (3) :ORPHA:280785 OMIM:154800 ORPHA:280794
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.