Human Phenotype Ontology 
..Starting node
..expandDistal joint laxity (HP:0020152)help
Term ID: 20152
Name: Distal joint laxity
Synonym:
Definition: Lack of stability of a distal joint (e.g., finger).
Comments:
Reference: HP:0020152
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:0020152HP:0020152Distal joint laxity0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0020152HP:0020152Distal joint laxity0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0020152HP:0020152Distal joint laxity0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19HP:0040283 - Occasional6
HP:0020152HP:0020152Distal joint laxity0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0020152HP:0020152Distal joint laxity0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0020152HP:0020152Distal joint laxity0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0020152HP:0020152Distal joint laxity0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89
HP:0020152HP:0020152Distal joint laxity0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0020152HP:0020152Distal joint laxity0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85


Genes (9) :ALG2 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COMP PLOD1 PYROXD1

Diseases (7) :OMIM:616228 OMIM:616471 OMIM:616720 OMIM:254090 ORPHA:750 ORPHA:1900 OMIM:617258
 

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