Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormal joint morphology (HP:0001367)help
Parent Node:
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Regional abnormality of skin (HP:0011356)help
..Starting node
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Pterygium (HP:0001059)help
Term ID: 1059
Name: Pterygium
Synonym: Pterygia
Definition: Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Comments:
Reference: HP:0001059
Genes and Diseases:
 
       Child Nodes:
........expandMultiple pterygia (HP:0001040) help
........expandAxillary pterygia (HP:0001060) help
........expandPopliteal pterygium (HP:0009756) help
........expandIntercrural pterygium (HP:0009757) help
........expandNeck pterygia (HP:0009759) help
........expandAntecubital pterygium (HP:0009760) help

 Sister Nodes: 
..expandAbnormal dermatoglyphics (HP:0007477) help
..expandAbnormal skin morphology of the palm (HP:0040211) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the plantar skin of foot (HP:0100872) help
..expandCutis gyrata of scalp (HP:0010541) help
..expandPalmoplantar pustulosis (HP:0100847) help
..expandPretibial blistering (HP:0012221) help
..expandPretibial myxedema (HP:0200028) help
..expandProminent digit pad (HP:0011298) 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:0001059HP:0001059Pterygium0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0001059HP:0001059Pterygium0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0001059HP:0001059Pterygium0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0001059HP:0001059Pterygium0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0001059HP:0001059Pterygium0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0001059HP:0001059Pterygium0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0001059HP:0001059Pterygium0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0001059HP:0001059Pterygium0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0001059HP:0001059Pterygium0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0001059HP:0001059Pterygium0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001059HP:0001059Pterygium0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional91
HP:0001059HP:0001059Pterygium0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0001059HP:0001059Pterygium0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0001059HP:0001059Pterygium0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0001059HP:0001059Pterygium0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0001059HP:0001059Pterygium0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0001059HP:0001059Pterygium0FKBP10 CL E G H6068118169ORPHA:2771Bruck syndromeHP:0040282 - Frequent61
HP:0001059HP:0001059Pterygium0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0001059HP:0001059Pterygium0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040283 - Occasional99
HP:0001059HP:0001059Pterygium0GPC6 CL E G H100824454OMIM:258315Omodysplasia 199
HP:0001059HP:0001059Pterygium0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0001059HP:0001059Pterygium0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndrome99
HP:0001059HP:0001059Pterygium0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0001059HP:0001059Pterygium0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0001059HP:0001059Pterygium0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional79
HP:0001059HP:0001059Pterygium0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0001059HP:0001059Pterygium0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional124
HP:0001059HP:0001059Pterygium0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001059HP:0001059Pterygium0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0001059HP:0001059Pterygium0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0001059HP:0001059Pterygium0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0001059HP:0001059Pterygium0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional72
HP:0001059HP:0001059Pterygium0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0001059HP:0001059Pterygium0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A166
HP:0001059HP:0001059Pterygium0MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0001059HP:0001059Pterygium0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional
HP:0001059HP:0001059Pterygium0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0001059HP:0001059Pterygium0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0001059HP:0001059Pterygium0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional
HP:0001059HP:0001059Pterygium0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0001059HP:0001059Pterygium0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001059HP:0001059Pterygium0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0001059HP:0001059Pterygium0PLOD2 CL E G H53529082ORPHA:2771Bruck syndromeHP:0040282 - Frequent45
HP:0001059HP:0001059Pterygium0PLOD2 CL E G H53529082OMIM:609220Bruck syndrome 2.45
HP:0001059HP:0001059Pterygium0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional73
HP:0001059HP:0001059Pterygium0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0001059HP:0001059Pterygium0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001059HP:0001059Pterygium0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional2
HP:0001059HP:0001059Pterygium0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040283 - Occasional106
HP:0001059HP:0001059Pterygium0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0001059HP:0001059Pterygium0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0001059HP:0009756Popliteal pterygium1BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0001059HP:0001040Multiple pterygia1CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0001059HP:0001040Multiple pterygia1CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0001059HP:0009756Popliteal pterygium1CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent68
HP:0001059HP:0001060Axillary pterygium1CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent68
HP:0001059HP:0001040Multiple pterygia1CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent68
HP:0001059HP:0009760Antecubital pterygium1CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent68
HP:0001059HP:0009760Antecubital pterygium1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001059HP:0009756Popliteal pterygium1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001059HP:0009757Intercrural pterygium1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001059HP:0001060Axillary pterygium1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001059HP:0009759Neck pterygia1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001059HP:0001040Multiple pterygia1CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0001059HP:0001060Axillary pterygium1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0001059HP:0009760Antecubital pterygium1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0001059HP:0009756Popliteal pterygium1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0001059HP:0001060Axillary pterygium1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0001059HP:0009756Popliteal pterygium1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0001059HP:0001060Axillary pterygium1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0001059HP:0009756Popliteal pterygium1IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0001059HP:0009757Intercrural pterygium1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0001059HP:0009756Popliteal pterygium1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0001059HP:0009759Neck pterygia1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0001059HP:0001060Axillary pterygium1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0001059HP:0009760Antecubital pterygium1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001059HP:0009760Antecubital pterygium1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0001059HP:0009756Popliteal pterygium1MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent166
HP:0001059HP:0001040Multiple pterygia1MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent166
HP:0001059HP:0001060Axillary pterygium1MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent166
HP:0001059HP:0009760Antecubital pterygium1MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040281 - Very frequent166
HP:0001059HP:0001040Multiple pterygia1MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0001059HP:0009760Antecubital pterygium1MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0001059HP:0009756Popliteal pterygium1PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0001059HP:0001060Axillary pterygium1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0001059HP:0009756Popliteal pterygium1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0001059HP:0001060Axillary pterygium1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001059HP:0009756Popliteal pterygium1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169


Genes (40) :ALPK3 BHLHA9 CHRNA1 CHRND CHRNG CHUK DDB2 DKC1 DOK7 EFNB1 ERCC2 ERCC3 ERCC4 ERCC5 FKBP10 GPC6 HSPG2 IRF6 IRX5 ITGA6 ITGB4 LMX1B MMP14 MMP2 MUSK MYH3 MYOD1 NHP2 NOP10 NUP88 PHGDH PITX1 PLEC PLOD2 RAPSN RIPK4 SLC18A3 TUBA1A XPA XPC

Diseases (31) :OMIM:618052 ORPHA:3329 OMIM:253290 ORPHA:2990 OMIM:265000 OMIM:619339 ORPHA:910 OMIM:305000 ORPHA:994 OMIM:304110 ORPHA:2771 OMIM:259450 ORPHA:93329 OMIM:258315 ORPHA:1865 ORPHA:1300 OMIM:119500 OMIM:611174 ORPHA:79403 OMIM:226730 OMIM:161200 ORPHA:2614 ORPHA:371428 OMIM:178110 OMIM:618469 OMIM:224230 OMIM:256520 OMIM:119800 OMIM:609220 ORPHA:1234 OMIM:263650
 

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