Human Phenotype Ontology 
..Starting node
..expandCutaneous macular amyloidosis (HP:0032347)help
Term ID: 32347
Name: Cutaneous macular amyloidosis
Synonym: Macular amyloidosis
Definition: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.
Comments:
Reference: HP:0032347
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032347HP:0032347Cutaneous macular amyloidosis0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37


Genes (1) :NLRP1

Diseases (1) :OMIM:615225
 

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