Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of finger (HP:0001167)help
..Starting node
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Abnormal finger flexion creases (HP:0006143)help
Term ID: 6143
Name: Abnormal finger flexion creases
Synonym:
Definition:
Comments:
Reference: HP:0006143
Genes and Diseases:
 
       Child Nodes:
........expandAbsent dorsal skin creases over affected joints (HP:0001049) help
........expandAbsent phalangeal crease (HP:0006109) help
................... HP:0001032 Absent distal interphalangeal creases
................... HP:0006077 Absent proximal finger flexion creases
................... HP:0006216 Single interphalangeal crease of fifth finger

 Sister Nodes: 
..expandAbnormal 2nd finger morphology (HP:0004100) help
..expandAbnormal 3rd finger morphology (HP:0004150) help
..expandAbnormal 4th finger morphology (HP:0004188) help
..expandAbnormal 5th finger morphology (HP:0004207) help
..expandAbnormal finger phalanx morphology (HP:0005918) help
..expandAbnormal fingertip morphology (HP:0001211) help
..expandAbnormal thumb morphology (HP:0001172) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandBroad finger (HP:0001500) help
..expandChilblains (HP:0009710) help
..expandCurved fingers (HP:0004095) help
..expandDeviation of finger (HP:0004097) help
..expandFinger dactylitis (HP:0031090) help
..expandFinger joint hypermobility (HP:0006094) help
..expandFinger swelling (HP:0025131) help
..expandLong fingers (HP:0100807) help
..expandMacrodactyly of finger (HP:0100746) help
..expandMallet finger (HP:0030771) help
..expandSlender finger (HP:0001238) help
..expandSpindle-shaped finger (HP:0031092) help
..expandSplayed fingers (HP:0030029) help
..expandSwan neck-like deformities of the fingers (HP:0006150) help
..expandTrident hand (HP:0004060) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006143HP:0006143Abnormal finger flexion creases0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0006143HP:0006143Abnormal finger flexion creases0GDF5 CL E G H8200615298Symphalangism, proximal, 1b615298C3809104OMIM159984220601146
HP:0006143HP:0006143Abnormal finger flexion creases0WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0006143HP:0006143Abnormal finger flexion creases1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0006143HP:0006143Abnormal finger flexion creases1GDF5 CL E G H8200615298Symphalangism, proximal, 1b615298C3809104OMIM159984220601146
HP:0006143HP:0006143Abnormal finger flexion creases1WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0006143HP:0006143Abnormal finger flexion creases2ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0006143HP:0006143Abnormal finger flexion creases2GDF5 CL E G H8200615298Symphalangism, proximal, 1b615298C3809104OMIM159984220601146
HP:0006143HP:0006143Abnormal finger flexion creases2WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0006143HP:0006143Abnormal finger flexion creases3ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0006143HP:0006143Abnormal finger flexion creases3GDF5 CL E G H8200615298Symphalangism, proximal, 1b615298C3809104OMIM159984220601146
HP:0006143HP:0006143Abnormal finger flexion creases3WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (15) :ATR GDF5 HOXD13 IHH LMX1B MASP1 MYH3 NOG PIEZO2 RBBP8 TBX15 TNNI2 TNNT3 TPM2 WNT7A

Diseases (14) :210600 615298 228930 601680 611377 108145 186300 112500 161200 257920 186500 251255 260660 108120
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.