Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of skin pigmentation (HP:0001000)help
Parent Node:
expandFreckling (HP:0001480)help
..Starting node
..expandAxillary freckling (HP:0000997)help
Term ID: 997
Name: Axillary freckling
Synonym:
Definition: The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Comments:
Reference: HP:0000997
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandInguinal freckling (HP:0030052) 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:0000997HP:0000997Axillary freckling0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0000997HP:0000997Axillary freckling0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000997HP:0000997Axillary freckling0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0000997HP:0000997Axillary freckling0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000997HP:0000997Axillary freckling0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000997HP:0000997Axillary freckling0NF1 CL E G H47637765OMIM:193520Watson syndrome.1952
HP:0000997HP:0000997Axillary freckling0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000997HP:0000997Axillary freckling0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136


Genes (4) :MLH1 MSH6 NF1 SPRED1

Diseases (8) :OMIM:276300 OMIM:619097 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:611431 ORPHA:137605
 

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