Human Phenotype Ontology 
Grandparent Node:
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Abnormality of finger (HP:0001167)help
Parent Node:
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Abnormal finger flexion creases (HP:0006143)help
..Starting node
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Absent phalangeal crease (HP:0006109)help
Term ID: 6109
Name: Absent phalangeal crease
Synonym: Absent interphalangeal creases; Aplasia of the interphalangeal creases
Definition: Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).
Comments:
Reference: HP:0006109
Genes and Diseases:
 
       Child Nodes:
........expandAbsent distal interphalangeal creases (HP:0001032) help
................... HP:0005780 Absent fourth finger distal interphalangeal crease
........expandAbsent proximal finger flexion creases (HP:0006077) help
........expandSingle interphalangeal crease of fifth finger (HP:0006216) help

 Sister Nodes: 
..expandAbsent dorsal skin creases over affected joints (HP:0001049) 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:0006109HP:0006109Absent phalangeal crease0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0006109HP:0006109Absent phalangeal crease0HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V25
HP:0006109HP:0006109Absent phalangeal crease0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0006109HP:0006109Absent phalangeal crease0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0006109HP:0006109Absent phalangeal crease0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0006109HP:0006109Absent phalangeal crease0MET CL E G H42337029OMIM:620019375
HP:0006109HP:0006109Absent phalangeal crease0MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0006109HP:0006109Absent phalangeal crease0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0006109HP:0006109Absent phalangeal crease0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006109HP:0006109Absent phalangeal crease0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0006109HP:0006109Absent phalangeal crease0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0006109HP:0006109Absent phalangeal crease0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006109HP:0006109Absent phalangeal crease0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0006109HP:0006109Absent phalangeal crease0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0006109HP:0006109Absent phalangeal crease0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0006109HP:0006109Absent phalangeal crease0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0006109HP:0001032Absent distal interphalangeal creases1HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V.25
HP:0006109HP:0001032Absent distal interphalangeal creases1IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0006109HP:0001032Absent distal interphalangeal creases1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0006109HP:0006216Single interphalangeal crease of fifth finger1MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0006109HP:0006077Absent proximal finger flexion creases1MET CL E G H42337029OMIM:620019375
HP:0006109HP:0006077Absent proximal finger flexion creases1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006109HP:0001032Absent distal interphalangeal creases1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0006109HP:0006216Single interphalangeal crease of fifth finger1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0006109HP:0006216Single interphalangeal crease of fifth finger1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006109HP:0006077Absent proximal finger flexion creases1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0006109HP:0001032Absent distal interphalangeal creases1TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0006109HP:0001032Absent distal interphalangeal creases1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0006109HP:0005780Absent fourth finger distal interphalangeal crease2RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0006109HP:0005780Absent fourth finger distal interphalangeal crease2TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571


Genes (15) :COL1A2 HOXD13 IHH LMX1B MASP1 MET MYH3 NOG PIEZO2 RBBP8 ROR2 TBX15 TLK2 TNNI2 TPM2

Diseases (16) :ORPHA:230851 OMIM:186300 OMIM:112500 OMIM:161200 OMIM:257920 OMIM:620019 OMIM:618469 OMIM:611377 OMIM:186500 OMIM:108145 OMIM:251255 OMIM:268310 OMIM:260660 OMIM:618050 OMIM:601680 OMIM:108120
 

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