Human Phenotype Ontology 
Grandparent Node:
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Abnormality of muscle size (HP:0030236)help
Grandparent Node:
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Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
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Abnormal tongue morphology (HP:0030809)help
Parent Node:
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Skeletal muscle hypertrophy (HP:0003712)help
..Starting node
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Macroglossia (HP:0000158)help
Term ID: 158
Name: Macroglossia
Synonym: Abnormally large tongue; Glossal hypertrophy; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Lingual hyperplasia; Lingual hypertrophy; Tongue hypertrophy
Definition: Increased length and width of the tongue.
Comments:
Reference: HP:0000158
Genes and Diseases:
 
       Child Nodes:
........expandTriangular tongue (HP:0030284) help
........expandHemimacroglossia (HP:0100875) help

 Sister Nodes: 
..expandFacial muscle hypertrophy (HP:0012892) help
..expandGeneralized muscle hypertrophy (HP:0003720) help
..expandMarked muscular hypertrophy (HP:0009042) help
..expandMuscle hypertrophy of the lower extremities (HP:0008968) help
..expandNeck muscle hypertrophy (HP:0012893) help
..expandParaspinal muscle hypertrophy (HP:0012894) help
..expandScapular muscle hypertrophy (HP:0012895) help
..expandUpper limb muscle hypertrophy (HP:0040265) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000158HP:0000158Macroglossia0 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0000158HP:0000158Macroglossia0ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA14965860601439
HP:0000158HP:0000158Macroglossia0ACTB CL E G H6079107ORPHA165224132102630
HP:0000158HP:0000158Macroglossia0AGA CL E G H17593ORPHA138239318613228
HP:0000158HP:0000158Macroglossia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000158HP:0000158Macroglossia0AIP CL E G H9049963ORPHA1112273358605555
HP:0000158HP:0000158Macroglossia0AKT1 CL E G H207201ORPHA112269391164730
HP:0000158HP:0000158Macroglossia0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000158HP:0000158Macroglossia0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000158HP:0000158Macroglossia0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0000158HP:0000158Macroglossia0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0000158HP:0000158Macroglossia0ATRX CL E G H546847ORPHA1170663886300032
HP:0000158HP:0000158Macroglossia0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000158HP:0000158Macroglossia0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000158HP:0000158Macroglossia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000158HP:0000158Macroglossia0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000158HP:0000158Macroglossia0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0000158HP:0000158Macroglossia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000158HP:0000158Macroglossia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000158HP:0000158Macroglossia0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0000158HP:0000158Macroglossia0DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0000158HP:0000158Macroglossia0DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0000158HP:0000158Macroglossia0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000158HP:0000158Macroglossia0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000158HP:0000158Macroglossia0EHMT1 CL E G H7981396147ORPHA19474624650607001
HP:0000158HP:0000158Macroglossia0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000158HP:0000158Macroglossia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000158HP:0000158Macroglossia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0000158HP:0000158Macroglossia0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000158HP:0000158Macroglossia0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0000158HP:0000158Macroglossia0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114140217997606596
HP:0000158HP:0000158Macroglossia0FOXE1 CL E G H230495713ORPHA131483806602617
HP:0000158HP:0000158Macroglossia0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0000158HP:0000158Macroglossia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000158HP:0000158Macroglossia0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000158HP:0000158Macroglossia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0000158HP:0000158Macroglossia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0000158HP:0000158Macroglossia0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000158HP:0000158Macroglossia0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000158HP:0000158Macroglossia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000158HP:0000158Macroglossia0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000158HP:0000158Macroglossia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000158HP:0000158Macroglossia0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000158HP:0000158Macroglossia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000158HP:0000158Macroglossia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000158HP:0000158Macroglossia0H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM138494713103280
HP:0000158HP:0000158Macroglossia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11262184879606873
HP:0000158HP:0000158Macroglossia0HRAS CL E G H32653071ORPHA1342955173190020
HP:0000158HP:0000158Macroglossia0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000158HP:0000158Macroglossia0HYMAI CL E G H5706196191ORPHA1155326606546
HP:0000158HP:0000158Macroglossia0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000158HP:0000158Macroglossia0IDUA CL E G H342593473ORPHA12916225391252800
HP:0000158HP:0000158Macroglossia0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0000158HP:0000158Macroglossia0IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM111675466147470
HP:0000158HP:0000158Macroglossia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15432521474613037
HP:0000158HP:0000158Macroglossia0ISPD CL E G H729920352479ORPHA147537276614631
HP:0000158HP:0000158Macroglossia0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM147537276614631
HP:0000158HP:0000158Macroglossia0IYD CL E G H38943495716ORPHA154621071612025
HP:0000158HP:0000158Macroglossia0KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM164312436294607542
HP:0000158HP:0000158Macroglossia0KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM18966295604115
HP:0000158HP:0000158Macroglossia0KLLN CL E G H100144748201ORPHA1823837212612105
HP:0000158HP:0000158Macroglossia0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA138014996482156225
HP:0000158HP:0000158Macroglossia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0000158HP:0000158Macroglossia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000158HP:0000158Macroglossia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000158HP:0000158Macroglossia0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000158HP:0000158Macroglossia0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0000158HP:0000158Macroglossia0NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0000158HP:0000158Macroglossia0NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0000158HP:0000158Macroglossia0NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0000158HP:0000158Macroglossia0PAX8 CL E G H784995720ORPHA1511438622167415
HP:0000158HP:0000158Macroglossia0PAX8 CL E G H784995712ORPHA1511438622167415
HP:0000158HP:0000158Macroglossia0PAX8 CL E G H784995713ORPHA1511438622167415
HP:0000158HP:0000158Macroglossia0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0000158HP:0000158Macroglossia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000158HP:0000158Macroglossia0PIGW CL E G H284098616025Hyperphosphatasia with mental retardation syndrome 5616025C4014958OMIM1413723213610275
HP:0000158HP:0000158Macroglossia0PIK3CA CL E G H5290201ORPHA1573798975171834
HP:0000158HP:0000158Macroglossia0PLAGL1 CL E G H532596191ORPHA12299046603044
HP:0000158HP:0000158Macroglossia0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM1965089202607423
HP:0000158HP:0000158Macroglossia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000158HP:0000158Macroglossia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000158HP:0000158Macroglossia0POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM146729210173110
HP:0000158HP:0000158Macroglossia0PQBP1 CL E G H1008493947ORPHA1222289330300463
HP:0000158HP:0000158Macroglossia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0000158HP:0000158Macroglossia0PTEN CL E G H5728201ORPHA165820199588601728
HP:0000158HP:0000158Macroglossia0PTEN CL E G H572865285ORPHA165820199588601728
HP:0000158HP:0000158Macroglossia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000158HP:0000158Macroglossia0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000158HP:0000158Macroglossia0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000158HP:0000158Macroglossia0SDHB CL E G H6390201ORPHA127966710681185470
HP:0000158HP:0000158Macroglossia0SDHC CL E G H6391201ORPHA16241510682602413
HP:0000158HP:0000158Macroglossia0SDHD CL E G H6392201ORPHA117436110683602690
HP:0000158HP:0000158Macroglossia0SEC23B CL E G H10483201ORPHA112614310702610512
HP:0000158HP:0000158Macroglossia0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000158HP:0000158Macroglossia0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000158HP:0000158Macroglossia0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA16930510809608896
HP:0000158HP:0000158Macroglossia0SLC26A4 CL E G H517295713ORPHA15645608818605646
HP:0000158HP:0000158Macroglossia0SLC26A4 CL E G H517295720ORPHA15645608818605646
HP:0000158HP:0000158Macroglossia0SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0000158HP:0000158Macroglossia0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0000158HP:0000158Macroglossia0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0000158HP:0000158Macroglossia0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000158HP:0000158Macroglossia0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0000158HP:0000158Macroglossia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000158HP:0000158Macroglossia0TG CL E G H703895716ORPHA117242911764188450
HP:0000158HP:0000158Macroglossia0THRA CL E G H706797927ORPHA1143411796190120
HP:0000158HP:0000158Macroglossia0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0000158HP:0000158Macroglossia0THRB CL E G H706897927ORPHA117129511799190160
HP:0000158HP:0000158Macroglossia0TPO CL E G H717395716ORPHA114725012015606765
HP:0000158HP:0000158Macroglossia0TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM15911343607043
HP:0000158HP:0000158Macroglossia0TRHR CL E G H720199832ORPHA174912299188545
HP:0000158HP:0000158Macroglossia0TSHB CL E G H725290674ORPHA1142512372188540
HP:0000158HP:0000158Macroglossia0TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM1142512372188540
HP:0000158HP:0000158Macroglossia0TSHR CL E G H725395713ORPHA116117812373603372
HP:0000158HP:0000158Macroglossia0TSHR CL E G H725395720ORPHA116117812373603372
HP:0000158HP:0000158Macroglossia0TSHR CL E G H725390673ORPHA116117812373603372
HP:0000158HP:0000158Macroglossia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0000158HP:0000158Macroglossia0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000158HP:0000158Macroglossia0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000158HP:0000158Macroglossia1 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0000158HP:0000158Macroglossia1ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA14965860601439
HP:0000158HP:0000158Macroglossia1ACTB CL E G H6079107ORPHA165224132102630
HP:0000158HP:0000158Macroglossia1AGA CL E G H17593ORPHA138239318613228
HP:0000158HP:0000158Macroglossia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000158HP:0000158Macroglossia1AIP CL E G H9049963ORPHA1112273358605555
HP:0000158HP:0000158Macroglossia1AKT1 CL E G H207201ORPHA112269391164730
HP:0000158HP:0000158Macroglossia1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000158HP:0000158Macroglossia1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000158HP:0000158Macroglossia1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0000158HP:0000158Macroglossia1ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0000158HP:0000158Macroglossia1ATRX CL E G H546847ORPHA1170663886300032
HP:0000158HP:0000158Macroglossia1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000158HP:0000158Macroglossia1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000158HP:0000158Macroglossia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000158HP:0000158Macroglossia1CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000158HP:0000158Macroglossia1CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0000158HP:0000158Macroglossia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000158HP:0000158Macroglossia1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000158HP:0000158Macroglossia1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0000158HP:0000158Macroglossia1DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0000158HP:0000158Macroglossia1DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0000158HP:0000158Macroglossia1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000158HP:0000158Macroglossia1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000158HP:0000158Macroglossia1EHMT1 CL E G H7981396147ORPHA19474624650607001
HP:0000158HP:0000158Macroglossia1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000158HP:0000158Macroglossia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000158HP:0000158Macroglossia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0000158HP:0000158Macroglossia1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000158HP:0000158Macroglossia1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0000158HP:0000158Macroglossia1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114140217997606596
HP:0000158HP:0000158Macroglossia1FOXE1 CL E G H230495713ORPHA131483806602617
HP:0000158HP:0000158Macroglossia1FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0000158HP:0000158Macroglossia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000158HP:0000158Macroglossia1FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000158HP:0000158Macroglossia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0000158HP:0000158Macroglossia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0000158HP:0000158Macroglossia1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000158HP:0000158Macroglossia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000158HP:0000158Macroglossia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000158HP:0000158Macroglossia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000158HP:0000158Macroglossia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000158HP:0000158Macroglossia1GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000158HP:0000158Macroglossia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000158HP:0000158Macroglossia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000158HP:0000158Macroglossia1H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM138494713103280
HP:0000158HP:0000158Macroglossia1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11262184879606873
HP:0000158HP:0000158Macroglossia1HRAS CL E G H32653071ORPHA1342955173190020
HP:0000158HP:0000158Macroglossia1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000158HP:0000158Macroglossia1HYMAI CL E G H5706196191ORPHA1155326606546
HP:0000158HP:0000158Macroglossia1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000158HP:0000158Macroglossia1IDUA CL E G H342593473ORPHA12916225391252800
HP:0000158HP:0000158Macroglossia1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0000158HP:0000158Macroglossia1IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM111675466147470
HP:0000158HP:0000158Macroglossia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15432521474613037
HP:0000158HP:0000158Macroglossia1ISPD CL E G H729920352479ORPHA147537276614631
HP:0000158HP:0000158Macroglossia1ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM147537276614631
HP:0000158HP:0000158Macroglossia1IYD CL E G H38943495716ORPHA154621071612025
HP:0000158HP:0000158Macroglossia1KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM164312436294607542
HP:0000158HP:0000158Macroglossia1KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM18966295604115
HP:0000158HP:0000158Macroglossia1KLLN CL E G H100144748201ORPHA1823837212612105
HP:0000158HP:0000158Macroglossia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA138014996482156225
HP:0000158HP:0000158Macroglossia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0000158HP:0000158Macroglossia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000158HP:0000158Macroglossia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000158HP:0000158Macroglossia1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000158HP:0000158Macroglossia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0000158HP:0000158Macroglossia1NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0000158HP:0000158Macroglossia1NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0000158HP:0000158Macroglossia1NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0000158HP:0000158Macroglossia1PAX8 CL E G H784995712ORPHA1511438622167415
HP:0000158HP:0000158Macroglossia1PAX8 CL E G H784995713ORPHA1511438622167415
HP:0000158HP:0000158Macroglossia1PAX8 CL E G H784995720ORPHA1511438622167415
HP:0000158HP:0000158Macroglossia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0000158HP:0000158Macroglossia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000158HP:0000158Macroglossia1PIGW CL E G H284098616025Hyperphosphatasia with mental retardation syndrome 5616025C4014958OMIM1413723213610275
HP:0000158HP:0000158Macroglossia1PIK3CA CL E G H5290201ORPHA1573798975171834
HP:0000158HP:0000158Macroglossia1PLAGL1 CL E G H532596191ORPHA12299046603044
HP:0000158HP:0000158Macroglossia1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM1965089202607423
HP:0000158HP:0000158Macroglossia1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000158HP:0000158Macroglossia1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000158HP:0000158Macroglossia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM146729210173110
HP:0000158HP:0000158Macroglossia1PQBP1 CL E G H1008493947ORPHA1222289330300463
HP:0000158HP:0000158Macroglossia1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0000158HP:0000158Macroglossia1PTEN CL E G H5728201ORPHA165820199588601728
HP:0000158HP:0000158Macroglossia1PTEN CL E G H572865285ORPHA165820199588601728
HP:0000158HP:0000158Macroglossia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000158HP:0000158Macroglossia1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000158HP:0000158Macroglossia1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000158HP:0000158Macroglossia1SDHB CL E G H6390201ORPHA127966710681185470
HP:0000158HP:0000158Macroglossia1SDHC CL E G H6391201ORPHA16241510682602413
HP:0000158HP:0000158Macroglossia1SDHD CL E G H6392201ORPHA117436110683602690
HP:0000158HP:0000158Macroglossia1SEC23B CL E G H10483201ORPHA112614310702610512
HP:0000158HP:0000158Macroglossia1SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000158HP:0000158Macroglossia1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000158HP:0000158Macroglossia1SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA16930510809608896
HP:0000158HP:0000158Macroglossia1SLC26A4 CL E G H517295713ORPHA15645608818605646
HP:0000158HP:0000158Macroglossia1SLC26A4 CL E G H517295720ORPHA15645608818605646
HP:0000158HP:0000158Macroglossia1SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0000158HP:0000158Macroglossia1SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0000158HP:0000158Macroglossia1SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0000158HP:0000158Macroglossia1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000158HP:0000158Macroglossia1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0000158HP:0000158Macroglossia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000158HP:0000158Macroglossia1TG CL E G H703895716ORPHA117242911764188450
HP:0000158HP:0000158Macroglossia1THRA CL E G H706797927ORPHA1143411796190120
HP:0000158HP:0000158Macroglossia1THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0000158HP:0000158Macroglossia1THRB CL E G H706897927ORPHA117129511799190160
HP:0000158HP:0000158Macroglossia1TPO CL E G H717395716ORPHA114725012015606765
HP:0000158HP:0000158Macroglossia1TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM15911343607043
HP:0000158HP:0000158Macroglossia1TRHR CL E G H720199832ORPHA174912299188545
HP:0000158HP:0000158Macroglossia1TSHB CL E G H725290674ORPHA1142512372188540
HP:0000158HP:0000158Macroglossia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM1142512372188540
HP:0000158HP:0000158Macroglossia1TSHR CL E G H725390673ORPHA116117812373603372
HP:0000158HP:0000158Macroglossia1TSHR CL E G H725395713ORPHA116117812373603372
HP:0000158HP:0000158Macroglossia1TSHR CL E G H725395720ORPHA116117812373603372
HP:0000158HP:0000158Macroglossia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0000158HP:0000158Macroglossia1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000158HP:0000158Macroglossia1WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000158HP:0000158Macroglossia0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0000158HP:0000158Macroglossia0CDCA7 CL E G H838792268ORPHA064614628609937
HP:0000158HP:0000158Macroglossia0DNMT3B CL E G H17892268ORPHA0572672979602900
HP:0000158HP:0000158Macroglossia0HELLS CL E G H30702268ORPHA06514861603946
HP:0000158HP:0000158Macroglossia0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0000158HP:0000158Macroglossia0MT-TE CL E G H4556254864ORPHA07479590025
HP:0000158HP:0000158Macroglossia0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0000158HP:0000158Macroglossia0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM075030129602486
HP:0000158HP:0000158Macroglossia0PRKAG2 CL E G H51422261740Glycogen storage disease of heart, lethal congenital261740C1849813OMIM0616409386602743
HP:0000158HP:0000158Macroglossia0PSMB8 CL E G H56962615ORPHA011869545177046
HP:0000158HP:0000158Macroglossia0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM0196114977616105
HP:0000158HP:0000158Macroglossia0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM0169628261616899
HP:0000158HP:0000158Macroglossia0TRMU CL E G H55687254864ORPHA02329625481610230
HP:0000158HP:0000158Macroglossia0ZBTB24 CL E G H98412268ORPHA01813421143614064
HP:0000158HP:0000158Macroglossia1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0000158HP:0000158Macroglossia1CDCA7 CL E G H838792268ORPHA064614628609937
HP:0000158HP:0000158Macroglossia1DNMT3B CL E G H17892268ORPHA0572672979602900
HP:0000158HP:0000158Macroglossia1HELLS CL E G H30702268ORPHA06514861603946
HP:0000158HP:0000158Macroglossia1KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0000158HP:0000158Macroglossia1MT-TE CL E G H4556254864ORPHA07479590025
HP:0000158HP:0000158Macroglossia1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0000158HP:0000158Macroglossia1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM075030129602486
HP:0000158HP:0000158Macroglossia1PRKAG2 CL E G H51422261740Glycogen storage disease of heart, lethal congenital261740C1849813OMIM0616409386602743
HP:0000158HP:0000158Macroglossia1PSMB8 CL E G H56962615ORPHA011869545177046
HP:0000158HP:0000158Macroglossia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM0196114977616105
HP:0000158HP:0000158Macroglossia1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM0169628261616899
HP:0000158HP:0000158Macroglossia1TRMU CL E G H55687254864ORPHA02329625481610230
HP:0000158HP:0000158Macroglossia1ZBTB24 CL E G H98412268ORPHA01813421143614064


Genes (111) :ABCC9 ACTB AGA AIP AKT1 AMPD2 ARID1A ARSB ATP6V1B2 ATRX BAZ1B CCDC47 CDCA7 CDKN1C CLIP2 CRPPA CUL4B DNMT3B DUOX2 DUOXA2 DVL1 DVL3 EHMT1 ELN FDX2 FIBP FKRP FOXE1 FOXG1 FTO FUCA1 GAA GATA1 GNPTAB GPC3 GPC4 GPR101 GTF2I GTF2IRD1 H19 H19-ICR HELLS HEXB HRAS HYMAI IDS IDUA IFT140 IGF2 INPP5E ISPD IYD KCNH1 KCNQ1 KCNQ1OT1 KLLN LAMA2 LARGE1 LIMK1 LIMS2 MAN2B1 MED13L MT-TW NKX2-1 NKX2-5 PAX8 PEX1 PIGS PIGW PIK3CA PLAGL1 POMT1 POMT2 POP1 POU1F1 PQBP1 PRKAG2 PSMB8 PTEN RFC2 RNF125 ROR2 SDHB SDHC SDHD SEC23B SETBP1 SGCG SLC26A4 SLC5A5 SMARCA4 SMARCB1 SNIP1 SNX14 TBCK TBL2 TG THRA THRB TPO TRAF3IP2 TRHR TRMU TRNE TRNW TSHB TSHR UBE3A VPS33A WNT5A ZBTB24

Diseases (89) :965 79107 93 208400 963 201 615809 614607 253200 3473 616455 847 301040 309580 904 618268 2268 130650 352479 616052 300354 242860 95716 180700 96147 610253 251900 617107 606612 607155 95713 261144 612938 230000 232300 190685 252500 373 312870 268800 3071 218040 96191 309900 93473 266920 213300 258 608840 248500 616789 95712 95720 218700 214100 618143 616025 613155 613150 613156 617396 613038 93947 261740 2615 256040 65285 616260 268310 798 269150 353 274400 614609 614608 614501 616354 616900 97927 614450 615527 99832 254864 90674 275100 90673 105830 617303 616827
 

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