Human Phenotype Ontology 
Grandparent Node:
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Abnormality of finger (HP:0001167)help
Grandparent Node:
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Abnormality of hand joint mobility (HP:0006256)help
Grandparent Node:
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Joint hypermobility (HP:0001382)help
Parent Node:
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Finger joint hypermobility (HP:0006094)help
..Starting node
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Increased laxity of fingers (HP:0006149)help
Term ID: 6149
Name: Increased laxity of fingers
Synonym:
Definition:
Comments:
Reference: HP:0006149
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperextensibility of the finger joints (HP:0001187) 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:0006149HP:0006149Increased laxity of fingers0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent65
HP:0006149HP:0006149Increased laxity of fingers0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent442
HP:0006149HP:0006149Increased laxity of fingers0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0006149HP:0006149Increased laxity of fingers0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent478
HP:0006149HP:0006149Increased laxity of fingers0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0006149HP:0006149Increased laxity of fingers0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent702
HP:0006149HP:0006149Increased laxity of fingers0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0006149HP:0006149Increased laxity of fingers0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89


Genes (5) :COL12A1 COL6A1 COL6A2 COL6A3 COMP

Diseases (3) :ORPHA:75840 OMIM:254090 ORPHA:750
 

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