Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal skeletal muscle morphology (HP:0011805)help
Grandparent Node:
expand
Abnormal tendon morphology (HP:0100261)help
Grandparent Node:
expand
Abnormality of connective tissue (HP:0003549)help
Grandparent Node:
expand
Abnormality of joint mobility (HP:0011729)help
Parent Node:
expand
Flexion contracture (HP:0001371)help
..Starting node
..expand
Progressive flexion contractures (HP:0005876)help
Term ID: 5876
Name: Progressive flexion contractures
Synonym: Joint contractures, progressive
Definition: Progressively worsening joint contractures.
Comments:
Reference: HP:0005876
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital contracture (HP:0002803) help
..expandContractures of the large joints (HP:0005781) help
..expandDecreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631) help
..expandFlexion contracture of digit (HP:0030044) help
..expandLimb joint contracture (HP:0003121) help
..expandMultiple joint contractures (HP:0002828) help
..expandNeck joint contracture (HP:0005997) help
..expandobsolete Joint contractures involving the joints of the feet (HP:0100492) 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:0005876HP:0005876Progressive flexion contractures0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0005876HP:0005876Progressive flexion contractures0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome.49
HP:0005876HP:0005876Progressive flexion contractures0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040283 - Occasional49
HP:0005876HP:0005876Progressive flexion contractures0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0005876HP:0005876Progressive flexion contractures0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional86
HP:0005876HP:0005876Progressive flexion contractures0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional1
HP:0005876HP:0005876Progressive flexion contractures0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0005876HP:0005876Progressive flexion contractures0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional27
HP:0005876HP:0005876Progressive flexion contractures0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1


Genes (8) :AIMP1 ANTXR2 ESCO2 GCH1 IMPDH2 MED12 NR4A2 SYT1

Diseases (7) :OMIM:260600 OMIM:228600 ORPHA:2028 ORPHA:3103 ORPHA:98808 ORPHA:93932 ORPHA:522077
 

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