Human Phenotype Ontology 
Grandparent Node:
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Abnormality of head or neck (HP:0000152)help
Parent Node:
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Abnormality of the neck (HP:0000464)help
..Starting node
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Cystic hygroma (HP:0000476)help
Term ID: 476
Name: Cystic hygroma
Synonym: Cystic hygroma of the neck
Definition: A cystic lymphatic lesion of the neck.
Comments:
Reference: HP:0000476
Genes and Diseases:
 
       Child Nodes:
........expandFetal cystic hygroma (HP:0010878) help
........expandPostnatal cystic hygroma (HP:0010879) help

 Sister Nodes: 
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal neck blood vessel morphology (HP:3000037) help
..expandBranchial anomaly (HP:0009794) help
..expandBroad neck (HP:0000475) help
..expandIncreased adipose tissue around the neck (HP:0000468) help
..expandLimitation of neck motion (HP:0005986) help
..expandLong neck (HP:0000472) help
..expandLow posterior hairline (HP:0002162) help
..expandNeck muscle hypoplasia (HP:0008984) help
..expandRedundant neck skin (HP:0005989) help
..expandShort neck (HP:0000470) help
..expandThickened nuchal skin fold (HP:0000474) help
..expandWebbed neck (HP:0000465) 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:0000476HP:0000476Cystic hygroma0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000476HP:0000476Cystic hygroma0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000476HP:0000476Cystic hygroma0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000476HP:0000476Cystic hygroma0CDC42BPB CL E G H95781738OMIM:619841
HP:0000476HP:0000476Cystic hygroma0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000476HP:0000476Cystic hygroma0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0000476HP:0000476Cystic hygroma0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0000476HP:0000476Cystic hygroma0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0000476HP:0000476Cystic hygroma0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0000476HP:0000476Cystic hygroma0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0000476HP:0000476Cystic hygroma0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent91
HP:0000476HP:0000476Cystic hygroma0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0000476HP:0000476Cystic hygroma0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000476HP:0000476Cystic hygroma0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0000476HP:0000476Cystic hygroma0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0000476HP:0000476Cystic hygroma0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000476HP:0000476Cystic hygroma0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000476HP:0000476Cystic hygroma0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000476HP:0000476Cystic hygroma0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000476HP:0000476Cystic hygroma0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000476HP:0000476Cystic hygroma0LAMA5 CL E G H39116485OMIM:6200765
HP:0000476HP:0000476Cystic hygroma0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000476HP:0000476Cystic hygroma0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000476HP:0000476Cystic hygroma0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000476HP:0000476Cystic hygroma0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040283 - Occasional3
HP:0000476HP:0000476Cystic hygroma0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0000476HP:0000476Cystic hygroma0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000476HP:0000476Cystic hygroma0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent72
HP:0000476HP:0000476Cystic hygroma0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000476HP:0000476Cystic hygroma0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000476HP:0000476Cystic hygroma0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000476HP:0000476Cystic hygroma0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000476HP:0000476Cystic hygroma0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000476HP:0000476Cystic hygroma0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000476HP:0000476Cystic hygroma0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000476HP:0000476Cystic hygroma0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000476HP:0000476Cystic hygroma0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent73
HP:0000476HP:0000476Cystic hygroma0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000476HP:0000476Cystic hygroma0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000476HP:0000476Cystic hygroma0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000476HP:0000476Cystic hygroma0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000476HP:0000476Cystic hygroma0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent2
HP:0000476HP:0000476Cystic hygroma0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040283 - Occasional166
HP:0000476HP:0000476Cystic hygroma0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000476HP:0000476Cystic hygroma0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000476HP:0000476Cystic hygroma0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000476HP:0000476Cystic hygroma0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000476HP:0000476Cystic hygroma0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0000476HP:0000476Cystic hygroma0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0000476HP:0000476Cystic hygroma0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040283 - Occasional133
HP:0000476HP:0000476Cystic hygroma0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent106
HP:0000476HP:0000476Cystic hygroma0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000476HP:0000476Cystic hygroma0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0000476HP:0010879Postnatal cystic hygroma1 CL E G H
HP:0000476HP:0010878Fetal cystic hygroma1 CL E G H


Genes (48) :BLTP1 BRAF CBL CDC42BPB CEP55 CHRNA1 CHRND CHRNG COL2A1 DLL3 DOK7 DONSON ESCO2 FOXC2 FOXF1 HNRNPK IFT43 KRAS LAMA5 LBR LZTR1 MAP2K1 MCTP2 MESP2 MRAS MUSK MYOD1 NRAS NUP88 PIGS PTPN11 RAF1 RAPSN RASA2 RIT1 RRAS RRAS2 SLC18A3 SLC26A2 SOS1 SOS2 SPRED2 TGDS TMEM216 TRAF7 TRIP11 TUBA1A WDR35

Diseases (29) :OMIM:617822 OMIM:163950 ORPHA:648 OMIM:619841 OMIM:236500 OMIM:253290 OMIM:200610 OMIM:277300 ORPHA:994 OMIM:251230 OMIM:268300 OMIM:153400 OMIM:265380 ORPHA:352665 ORPHA:453504 OMIM:617866 OMIM:609942 OMIM:620076 OMIM:215140 ORPHA:1596 OMIM:618975 OMIM:618143 ORPHA:93298 OMIM:616145 OMIM:603194 OMIM:618164 ORPHA:93299 OMIM:613610 OMIM:614091
 

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