Human Phenotype Ontology 
Grandparent Node:
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Abnormal palate morphology (HP:0000174)help
Parent Node:
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Abnormal soft palate morphology (HP:0100736)help
..Starting node
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Abnormal uvula morphology (HP:0000172)help
Term ID: 172
Name: Abnormal uvula morphology
Synonym: Abnormality of palatine uvula; Abnormality of the uvula
Definition: Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.
Comments:
Reference: HP:0000172
Genes and Diseases:
 
       Child Nodes:
........expandBifid uvula (HP:0000193) help
........expandAplasia/Hypoplasia of the uvula (HP:0010293) help
................... HP:0010292 Absent uvula
................... HP:0010812 Short uvula
........expandBroad uvula (HP:0010809) help
........expandLong uvula (HP:0010810) help
........expandNarrow uvula (HP:0010811) help
........expandAbnormality of uvular muscle (HP:0430017) help

 Sister Nodes: 
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbsent soft palate (HP:0031046) help
..expandCleft soft palate (HP:0000185) help
..expandVelopharyngeal insufficiency (HP:0000220) 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:0000172HP:0000172Abnormal uvula morphology0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000172HP:0000172Abnormal uvula morphology0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0000172HP:0000172Abnormal uvula morphology0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0000172HP:0000172Abnormal uvula morphology0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000172HP:0000172Abnormal uvula morphology0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000172HP:0000172Abnormal uvula morphology0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0000172HP:0000172Abnormal uvula morphology0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000172HP:0000172Abnormal uvula morphology0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000172HP:0000172Abnormal uvula morphology0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000172HP:0000172Abnormal uvula morphology0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0000172HP:0000172Abnormal uvula morphology0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000172HP:0000172Abnormal uvula morphology0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0000172HP:0000172Abnormal uvula morphology0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0000172HP:0000172Abnormal uvula morphology0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000172HP:0000172Abnormal uvula morphology0BGN CL E G H6331044OMIM:300989Meester-Loeys syndrome7
HP:0000172HP:0000172Abnormal uvula morphology0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0000172HP:0000172Abnormal uvula morphology0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000172HP:0000172Abnormal uvula morphology0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0000172HP:0000172Abnormal uvula morphology0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0000172HP:0000172Abnormal uvula morphology0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0000172HP:0000172Abnormal uvula morphology0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0000172HP:0000172Abnormal uvula morphology0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0000172HP:0000172Abnormal uvula morphology0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000172HP:0000172Abnormal uvula morphology0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000172HP:0000172Abnormal uvula morphology0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0000172HP:0000172Abnormal uvula morphology0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0000172HP:0000172Abnormal uvula morphology0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0000172HP:0000172Abnormal uvula morphology0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0000172HP:0000172Abnormal uvula morphology0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0000172HP:0000172Abnormal uvula morphology0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000172HP:0000172Abnormal uvula morphology0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000172HP:0000172Abnormal uvula morphology0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000172HP:0000172Abnormal uvula morphology0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0000172HP:0000172Abnormal uvula morphology0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0000172HP:0000172Abnormal uvula morphology0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000172HP:0000172Abnormal uvula morphology0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0000172HP:0000172Abnormal uvula morphology0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0000172HP:0000172Abnormal uvula morphology0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000172HP:0000172Abnormal uvula morphology0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0000172HP:0000172Abnormal uvula morphology0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000172HP:0000172Abnormal uvula morphology0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000172HP:0000172Abnormal uvula morphology0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000172HP:0000172Abnormal uvula morphology0DHCR24 CL E G H17182859ORPHA:35107Desmosterolosis72
HP:0000172HP:0000172Abnormal uvula morphology0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000172HP:0000172Abnormal uvula morphology0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0000172HP:0000172Abnormal uvula morphology0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0000172HP:0000172Abnormal uvula morphology0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0000172HP:0000172Abnormal uvula morphology0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0000172HP:0000172Abnormal uvula morphology0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000172HP:0000172Abnormal uvula morphology0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000172HP:0000172Abnormal uvula morphology0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0000172HP:0000172Abnormal uvula morphology0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0000172HP:0000172Abnormal uvula morphology0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0000172HP:0000172Abnormal uvula morphology0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0000172HP:0000172Abnormal uvula morphology0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000172HP:0000172Abnormal uvula morphology0EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 36
HP:0000172HP:0000172Abnormal uvula morphology0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0000172HP:0000172Abnormal uvula morphology0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0000172HP:0000172Abnormal uvula morphology0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000172HP:0000172Abnormal uvula morphology0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0000172HP:0000172Abnormal uvula morphology0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0000172HP:0000172Abnormal uvula morphology0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0000172HP:0000172Abnormal uvula morphology0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0000172HP:0000172Abnormal uvula morphology0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0000172HP:0000172Abnormal uvula morphology0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0000172HP:0000172Abnormal uvula morphology0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0000172HP:0000172Abnormal uvula morphology0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0000172HP:0000172Abnormal uvula morphology0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0000172HP:0000172Abnormal uvula morphology0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0000172HP:0000172Abnormal uvula morphology0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0000172HP:0000172Abnormal uvula morphology0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0000172HP:0000172Abnormal uvula morphology0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0000172HP:0000172Abnormal uvula morphology0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0000172HP:0000172Abnormal uvula morphology0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0000172HP:0000172Abnormal uvula morphology0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0000172HP:0000172Abnormal uvula morphology0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0000172HP:0000172Abnormal uvula morphology0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0000172HP:0000172Abnormal uvula morphology0FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0000172HP:0000172Abnormal uvula morphology0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0000172HP:0000172Abnormal uvula morphology0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0000172HP:0000172Abnormal uvula morphology0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0000172HP:0000172Abnormal uvula morphology0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0000172HP:0000172Abnormal uvula morphology0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0000172HP:0000172Abnormal uvula morphology0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0000172HP:0000172Abnormal uvula morphology0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0000172HP:0000172Abnormal uvula morphology0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0000172HP:0000172Abnormal uvula morphology0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0000172HP:0000172Abnormal uvula morphology0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0000172HP:0000172Abnormal uvula morphology0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0000172HP:0000172Abnormal uvula morphology0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0000172HP:0000172Abnormal uvula morphology0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0000172HP:0000172Abnormal uvula morphology0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0000172HP:0000172Abnormal uvula morphology0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0000172HP:0000172Abnormal uvula morphology0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000172HP:0000172Abnormal uvula morphology0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000172HP:0000172Abnormal uvula morphology0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0000172HP:0000172Abnormal uvula morphology0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0000172HP:0000172Abnormal uvula morphology0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0000172HP:0000172Abnormal uvula morphology0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0000172HP:0000172Abnormal uvula morphology0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000172HP:0000172Abnormal uvula morphology0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0000172HP:0000172Abnormal uvula morphology0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000172HP:0000172Abnormal uvula morphology0GRHL3 CL E G H5782225839ORPHA:99771Bifid uvula12
HP:0000172HP:0000172Abnormal uvula morphology0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0000172HP:0000172Abnormal uvula morphology0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000172HP:0000172Abnormal uvula morphology0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000172HP:0000172Abnormal uvula morphology0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000172HP:0000172Abnormal uvula morphology0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0000172HP:0000172Abnormal uvula morphology0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000172HP:0000172Abnormal uvula morphology0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000172HP:0000172Abnormal uvula morphology0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0000172HP:0000172Abnormal uvula morphology0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000172HP:0000172Abnormal uvula morphology0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0000172HP:0000172Abnormal uvula morphology0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 199
HP:0000172HP:0000172Abnormal uvula morphology0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0000172HP:0000172Abnormal uvula morphology0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000172HP:0000172Abnormal uvula morphology0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000172HP:0000172Abnormal uvula morphology0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000172HP:0000172Abnormal uvula morphology0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000172HP:0000172Abnormal uvula morphology0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 129
HP:0000172HP:0000172Abnormal uvula morphology0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000172HP:0000172Abnormal uvula morphology0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0000172HP:0000172Abnormal uvula morphology0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0000172HP:0000172Abnormal uvula morphology0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0000172HP:0000172Abnormal uvula morphology0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0000172HP:0000172Abnormal uvula morphology0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0000172HP:0000172Abnormal uvula morphology0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000172HP:0000172Abnormal uvula morphology0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000172HP:0000172Abnormal uvula morphology0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 4413
HP:0000172HP:0000172Abnormal uvula morphology0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000172HP:0000172Abnormal uvula morphology0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0000172HP:0000172Abnormal uvula morphology0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0000172HP:0000172Abnormal uvula morphology0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0000172HP:0000172Abnormal uvula morphology0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0000172HP:0000172Abnormal uvula morphology0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 22
HP:0000172HP:0000172Abnormal uvula morphology0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0000172HP:0000172Abnormal uvula morphology0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0000172HP:0000172Abnormal uvula morphology0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0000172HP:0000172Abnormal uvula morphology0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0000172HP:0000172Abnormal uvula morphology0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000172HP:0000172Abnormal uvula morphology0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0000172HP:0000172Abnormal uvula morphology0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0000172HP:0000172Abnormal uvula morphology0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000172HP:0000172Abnormal uvula morphology0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000172HP:0000172Abnormal uvula morphology0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0000172HP:0000172Abnormal uvula morphology0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0000172HP:0000172Abnormal uvula morphology0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0000172HP:0000172Abnormal uvula morphology0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0000172HP:0000172Abnormal uvula morphology0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0000172HP:0000172Abnormal uvula morphology0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0000172HP:0000172Abnormal uvula morphology0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0000172HP:0000172Abnormal uvula morphology0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0000172HP:0000172Abnormal uvula morphology0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0000172HP:0000172Abnormal uvula morphology0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0000172HP:0000172Abnormal uvula morphology0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000172HP:0000172Abnormal uvula morphology0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000172HP:0000172Abnormal uvula morphology0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0000172HP:0000172Abnormal uvula morphology0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0000172HP:0000172Abnormal uvula morphology0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0000172HP:0000172Abnormal uvula morphology0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0000172HP:0000172Abnormal uvula morphology0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0000172HP:0000172Abnormal uvula morphology0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000172HP:0000172Abnormal uvula morphology0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000172HP:0000172Abnormal uvula morphology0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0000172HP:0000172Abnormal uvula morphology0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0000172HP:0000172Abnormal uvula morphology0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0000172HP:0000172Abnormal uvula morphology0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0000172HP:0000172Abnormal uvula morphology0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0000172HP:0000172Abnormal uvula morphology0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0000172HP:0000172Abnormal uvula morphology0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0000172HP:0000172Abnormal uvula morphology0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0000172HP:0000172Abnormal uvula morphology0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0000172HP:0000172Abnormal uvula morphology0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0000172HP:0000172Abnormal uvula morphology0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000172HP:0000172Abnormal uvula morphology0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 640
HP:0000172HP:0000172Abnormal uvula morphology0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000172HP:0000172Abnormal uvula morphology0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1
HP:0000172HP:0000172Abnormal uvula morphology0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000172HP:0000172Abnormal uvula morphology0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0000172HP:0000172Abnormal uvula morphology0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0000172HP:0000172Abnormal uvula morphology0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0000172HP:0000172Abnormal uvula morphology0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0000172HP:0000172Abnormal uvula morphology0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000172HP:0000172Abnormal uvula morphology0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000172HP:0000172Abnormal uvula morphology0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040283 - Occasional64
HP:0000172HP:0000172Abnormal uvula morphology0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0000172HP:0000172Abnormal uvula morphology0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0000172HP:0000172Abnormal uvula morphology0SHH CL E G H646910848OMIM:142945Holoprosencephaly 367
HP:0000172HP:0000172Abnormal uvula morphology0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0000172HP:0000172Abnormal uvula morphology0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0000172HP:0000172Abnormal uvula morphology0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0000172HP:0000172Abnormal uvula morphology0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000172HP:0000172Abnormal uvula morphology0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000172HP:0000172Abnormal uvula morphology0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000172HP:0000172Abnormal uvula morphology0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000172HP:0000172Abnormal uvula morphology0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000172HP:0000172Abnormal uvula morphology0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000172HP:0000172Abnormal uvula morphology0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0000172HP:0000172Abnormal uvula morphology0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0000172HP:0000172Abnormal uvula morphology0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000172HP:0000172Abnormal uvula morphology0SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0000172HP:0000172Abnormal uvula morphology0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000172HP:0000172Abnormal uvula morphology0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0000172HP:0000172Abnormal uvula morphology0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0000172HP:0000172Abnormal uvula morphology0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000172HP:0000172Abnormal uvula morphology0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000172HP:0000172Abnormal uvula morphology0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000172HP:0000172Abnormal uvula morphology0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0000172HP:0000172Abnormal uvula morphology0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000172HP:0000172Abnormal uvula morphology0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0000172HP:0000172Abnormal uvula morphology0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000172HP:0000172Abnormal uvula morphology0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0000172HP:0000172Abnormal uvula morphology0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0000172HP:0000172Abnormal uvula morphology0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0000172HP:0000172Abnormal uvula morphology0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0000172HP:0000172Abnormal uvula morphology0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0000172HP:0000172Abnormal uvula morphology0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0000172HP:0000172Abnormal uvula morphology0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0000172HP:0000172Abnormal uvula morphology0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000172HP:0000172Abnormal uvula morphology0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0000172HP:0000172Abnormal uvula morphology0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000172HP:0000172Abnormal uvula morphology0TBX22 CL E G H5094511600OMIM:303400Cleft palate, X-linked28
HP:0000172HP:0000172Abnormal uvula morphology0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0000172HP:0000172Abnormal uvula morphology0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0000172HP:0000172Abnormal uvula morphology0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0000172HP:0000172Abnormal uvula morphology0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0000172HP:0000172Abnormal uvula morphology0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0000172HP:0000172Abnormal uvula morphology0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000172HP:0000172Abnormal uvula morphology0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000172HP:0000172Abnormal uvula morphology0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0000172HP:0000172Abnormal uvula morphology0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000172HP:0000172Abnormal uvula morphology0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0000172HP:0000172Abnormal uvula morphology0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000172HP:0000172Abnormal uvula morphology0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0000172HP:0000172Abnormal uvula morphology0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0000172HP:0000172Abnormal uvula morphology0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome140
HP:0000172HP:0000172Abnormal uvula morphology0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0000172HP:0000172Abnormal uvula morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000172HP:0000172Abnormal uvula morphology0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0000172HP:0000172Abnormal uvula morphology0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0000172HP:0000172Abnormal uvula morphology0UBB CL E G H731412463ORPHA:99771Bifid uvula
HP:0000172HP:0000172Abnormal uvula morphology0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0000172HP:0000172Abnormal uvula morphology0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0000172HP:0000172Abnormal uvula morphology0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000172HP:0000172Abnormal uvula morphology0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0000172HP:0000172Abnormal uvula morphology0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000172HP:0000172Abnormal uvula morphology0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000172HP:0000172Abnormal uvula morphology0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000172HP:0000172Abnormal uvula morphology0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0000172HP:0000172Abnormal uvula morphology0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0000172HP:0000172Abnormal uvula morphology0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0000172HP:0000172Abnormal uvula morphology0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0000172HP:0010811Narrow uvula1 CL E G H
HP:0000172HP:0430017Abnormality of uvular muscle1 CL E G H
HP:0000172HP:0010810Long uvula1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000172HP:0000193Bifid uvula1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000172HP:0000193Bifid uvula1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000172HP:0000193Bifid uvula1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000172HP:0000193Bifid uvula1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040282 - Frequent34
HP:0000172HP:0000193Bifid uvula1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000172HP:0000193Bifid uvula1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000172HP:0000193Bifid uvula1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000172HP:0000193Bifid uvula1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000172HP:0000193Bifid uvula1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000172HP:0000193Bifid uvula1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000172HP:0000193Bifid uvula1B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0000172HP:0000193Bifid uvula1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000172HP:0000193Bifid uvula1BGN CL E G H6331044OMIM:300989Meester-Loeys syndrome.7
HP:0000172HP:0000193Bifid uvula1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000172HP:0000193Bifid uvula1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 6.38
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000172HP:0000193Bifid uvula1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional9
HP:0000172HP:0000193Bifid uvula1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional31
HP:0000172HP:0000193Bifid uvula1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000172HP:0000193Bifid uvula1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000172HP:0000193Bifid uvula1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000172HP:0000193Bifid uvula1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0000172HP:0000193Bifid uvula1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000172HP:0000193Bifid uvula1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000172HP:0000193Bifid uvula1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional50
HP:0000172HP:0000193Bifid uvula1CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000172HP:0000193Bifid uvula1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000172HP:0000193Bifid uvula1COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000172HP:0000193Bifid uvula1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0000172HP:0000193Bifid uvula1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0000172HP:0000193Bifid uvula1COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000172HP:0000193Bifid uvula1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000172HP:0000193Bifid uvula1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000172HP:0000193Bifid uvula1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000172HP:0000193Bifid uvula1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000172HP:0000193Bifid uvula1DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000172HP:0000193Bifid uvula1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000172HP:0000193Bifid uvula1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome VHP:0040283 - Occasional2
HP:0000172HP:0000193Bifid uvula1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0000172HP:0000193Bifid uvula1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000172HP:0000193Bifid uvula1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000172HP:0000193Bifid uvula1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0000172HP:0000193Bifid uvula1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000172HP:0000193Bifid uvula1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000172HP:0000193Bifid uvula1DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000172HP:0000193Bifid uvula1DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000172HP:0000193Bifid uvula1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000172HP:0000193Bifid uvula1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0000172HP:0000193Bifid uvula1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000172HP:0000193Bifid uvula1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000172HP:0000193Bifid uvula1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000172HP:0000193Bifid uvula1EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 3.6
HP:0000172HP:0000193Bifid uvula1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000172HP:0000193Bifid uvula1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000172HP:0000193Bifid uvula1FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0000172HP:0000193Bifid uvula1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0000172HP:0000193Bifid uvula1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000172HP:0000193Bifid uvula1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0000172HP:0000193Bifid uvula1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000172HP:0000193Bifid uvula1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000172HP:0000193Bifid uvula1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0000172HP:0000193Bifid uvula1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000172HP:0000193Bifid uvula1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000172HP:0000193Bifid uvula1FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0000172HP:0000193Bifid uvula1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0000172HP:0000193Bifid uvula1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0000172HP:0000193Bifid uvula1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000172HP:0000193Bifid uvula1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000172HP:0000193Bifid uvula1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0000172HP:0000193Bifid uvula1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000172HP:0000193Bifid uvula1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0000172HP:0000193Bifid uvula1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000172HP:0000193Bifid uvula1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000172HP:0000193Bifid uvula1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000172HP:0000193Bifid uvula1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000172HP:0000193Bifid uvula1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0000172HP:0000193Bifid uvula1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000172HP:0000193Bifid uvula1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000172HP:0000193Bifid uvula1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000172HP:0000193Bifid uvula1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000172HP:0000193Bifid uvula1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000172HP:0000193Bifid uvula1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0000172HP:0000193Bifid uvula1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000172HP:0000193Bifid uvula1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000172HP:0000193Bifid uvula1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000172HP:0000193Bifid uvula1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional3
HP:0000172HP:0000193Bifid uvula1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000172HP:0000193Bifid uvula1GRHL3 CL E G H5782225839ORPHA:99771Bifid uvulaHP:0040280 - Obligate12
HP:0000172HP:0000193Bifid uvula1HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0000172HP:0000193Bifid uvula1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000172HP:0000193Bifid uvula1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000172HP:0000193Bifid uvula1HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000172HP:0000193Bifid uvula1HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0000172HP:0000193Bifid uvula1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactylyHP:0040284 - Very rare148
HP:0000172HP:0000193Bifid uvula1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000172HP:0000193Bifid uvula1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000172HP:0000193Bifid uvula1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000172HP:0010809Broad uvula1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000172HP:0000193Bifid uvula1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0000172HP:0000193Bifid uvula1IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0000172HP:0000193Bifid uvula1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0000172HP:0000193Bifid uvula1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000172HP:0000193Bifid uvula1KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000172HP:0000193Bifid uvula1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000172HP:0000193Bifid uvula1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000172HP:0000193Bifid uvula1KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12HP:0040283 - Occasional9
HP:0000172HP:0000193Bifid uvula1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000172HP:0000193Bifid uvula1KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0000172HP:0000193Bifid uvula1KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0000172HP:0000193Bifid uvula1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000172HP:0000193Bifid uvula1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0000172HP:0000193Bifid uvula1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000172HP:0000193Bifid uvula1MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000172HP:0000193Bifid uvula1METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 4413
HP:0000172HP:0000193Bifid uvula1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000172HP:0000193Bifid uvula1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000172HP:0000193Bifid uvula1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0000172HP:0000193Bifid uvula1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000172HP:0000193Bifid uvula1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 22
HP:0000172HP:0000193Bifid uvula1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional53
HP:0000172HP:0000193Bifid uvula1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional21
HP:0000172HP:0000193Bifid uvula1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional39
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000172HP:0000193Bifid uvula1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000172HP:0000193Bifid uvula1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000172HP:0000193Bifid uvula1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000172HP:0000193Bifid uvula1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0000172HP:0000193Bifid uvula1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000172HP:0000193Bifid uvula1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0000172HP:0000193Bifid uvula1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000172HP:0000193Bifid uvula1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000172HP:0000193Bifid uvula1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000172HP:0000193Bifid uvula1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000172HP:0000193Bifid uvula1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000172HP:0000193Bifid uvula1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000172HP:0000193Bifid uvula1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000172HP:0000193Bifid uvula1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000172HP:0000193Bifid uvula1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndromeHP:0040284 - Very rare2
HP:0000172HP:0000193Bifid uvula1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0000172HP:0000193Bifid uvula1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0000172HP:0000193Bifid uvula1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0000172HP:0000193Bifid uvula1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0000172HP:0000193Bifid uvula1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0000172HP:0000193Bifid uvula1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000172HP:0000193Bifid uvula1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000172HP:0000193Bifid uvula1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0000172HP:0000193Bifid uvula1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000172HP:0000193Bifid uvula1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000172HP:0000193Bifid uvula1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000172HP:0000193Bifid uvula1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000172HP:0000193Bifid uvula1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000172HP:0000193Bifid uvula1RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0000172HP:0000193Bifid uvula1RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000172HP:0000193Bifid uvula1RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1
HP:0000172HP:0000193Bifid uvula1RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000172HP:0000193Bifid uvula1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000172HP:0000193Bifid uvula1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000172HP:0000193Bifid uvula1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0000172HP:0000193Bifid uvula1SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasiaHP:0040283 - Occasional2
HP:0000172HP:0000193Bifid uvula1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent
HP:0000172HP:0000193Bifid uvula1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000172HP:0000193Bifid uvula1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000172HP:0000193Bifid uvula1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000172HP:0000193Bifid uvula1SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0000172HP:0000193Bifid uvula1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0000172HP:0000193Bifid uvula1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000172HP:0000193Bifid uvula1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000172HP:0000193Bifid uvula1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000172HP:0000193Bifid uvula1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000172HP:0000193Bifid uvula1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000172HP:0000193Bifid uvula1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000172HP:0000193Bifid uvula1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0000172HP:0000193Bifid uvula1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000172HP:0000193Bifid uvula1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000172HP:0000193Bifid uvula1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000172HP:0000193Bifid uvula1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0000172HP:0000193Bifid uvula1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000172HP:0000193Bifid uvula1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000172HP:0000193Bifid uvula1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000172HP:0000193Bifid uvula1SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040283 - Occasional504
HP:0000172HP:0000193Bifid uvula1SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000172HP:0000193Bifid uvula1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000172HP:0000193Bifid uvula1SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040283 - Occasional174
HP:0000172HP:0000193Bifid uvula1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000172HP:0000193Bifid uvula1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000172HP:0000193Bifid uvula1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000172HP:0000193Bifid uvula1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000172HP:0000193Bifid uvula1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000172HP:0000193Bifid uvula1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000172HP:0000193Bifid uvula1STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040283 - Occasional14
HP:0000172HP:0000193Bifid uvula1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000172HP:0000193Bifid uvula1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000172HP:0000193Bifid uvula1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000172HP:0000193Bifid uvula1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0000172HP:0000193Bifid uvula1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000172HP:0000193Bifid uvula1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000172HP:0000193Bifid uvula1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000172HP:0000193Bifid uvula1TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000172HP:0000193Bifid uvula1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000172HP:0000193Bifid uvula1TBX22 CL E G H5094511600OMIM:303400Cleft palate, X-linked.28
HP:0000172HP:0000193Bifid uvula1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0000172HP:0000193Bifid uvula1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000172HP:0000193Bifid uvula1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0000172HP:0000193Bifid uvula1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000172HP:0000193Bifid uvula1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000172HP:0000193Bifid uvula1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000172HP:0010809Broad uvula1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000172HP:0000193Bifid uvula1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000172HP:0000193Bifid uvula1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000172HP:0000193Bifid uvula1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000172HP:0000193Bifid uvula1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000172HP:0000193Bifid uvula1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000172HP:0000193Bifid uvula1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000172HP:0000193Bifid uvula1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000172HP:0000193Bifid uvula1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000172HP:0000193Bifid uvula1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000172HP:0000193Bifid uvula1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0000172HP:0000193Bifid uvula1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0000172HP:0000193Bifid uvula1TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0000172HP:0000193Bifid uvula1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000172HP:0000193Bifid uvula1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000172HP:0000193Bifid uvula1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000172HP:0000193Bifid uvula1UBB CL E G H731412463ORPHA:99771Bifid uvulaHP:0040280 - Obligate
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000172HP:0000193Bifid uvula1USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000172HP:0010293Aplasia/Hypoplasia of the uvula1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000172HP:0000193Bifid uvula1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2HP:0040284 - Very rare14
HP:0000172HP:0000193Bifid uvula1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0000172HP:0000193Bifid uvula1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362
HP:0000172HP:0000193Bifid uvula1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000172HP:0000193Bifid uvula1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0000172HP:0000193Bifid uvula1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000172HP:0000193Bifid uvula1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0000172HP:0010292Absent uvula2NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000172HP:0010292Absent uvula2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000172HP:0010292Absent uvula2PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0000172HP:0010812Short uvula2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000172HP:0010292Absent uvula2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000172HP:0010812Short uvula2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000172HP:0010812Short uvula2WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136


Genes (185) :AEBP1 ALG3 ALG9 AMER1 AMMECR1 ASPH ATP6V1B2 B3GALNT2 B4GALT7 B4GAT1 B9D2 BCOR BGN BIN1 BMP4 BRCA1 BRCA2 BRIP1 CDC45 CDC6 CDH11 CDON CDT1 CHD4 COL11A1 COL11A2 COL2A1 COL4A1 CRPPA CUL3 DAG1 DDX3X DDX59 DHCR24 DHCR7 DISP1 DLG3 DLK1 DLL1 EDN1 EIF4A3 ERCC4 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO11 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FKRP FKTN FLNA FOXH1 FTO GAS1 GJA5 GJA8 GLI2 GLI3 GMNN GNAI3 GRHL3 HAAO HNRNPK HYAL1 HYLS1 IFT140 IGBP1 IPO8 IRF6 KAT6B KCNH1 KCNK9 KCNN3 KIF14 KIF7 KMT2C LARGE1 MAD2L2 MAP3K7 MEG3 METTL23 MYL11 NODAL NXN ORC1 ORC4 ORC6 PALB2 PGAP1 PGAP2 PGAP3 PGM1 PI4KA PIEZO2 PIGL PIGO PIGV PIGW PIGY PLCB4 PLCH1 POGZ POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PRR12 PTCH1 PTDSS1 RAD51 RAD51C RECQL4 RFWD3 RNU4ATAC ROR2 RPL5 RPS23 RPS28 RTL1 RXYLT1 RYR1 SATB2 SEC23A SELENOI SERPING1 SETD5 SHH SHMT2 SIAH1 SIX1 SIX3 SKIC3 SLC39A13 SLX4 SMAD3 SMAD4 SMARCD1 SMC1A SMCHD1 SMPD4 SMS SNRPN SON SPEG SPTBN1 STAC3 STAG2 STIL SUPT16H TBCE TBX1 TBX22 TCTN3 TDGF1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TMEM231 TP63 TTN TXNL4A UBB UBE2T USP9X WDR35 XRCC2 XYLT1 ZEB2 ZIC2

Diseases (133) :ORPHA:536532 ORPHA:79321 OMIM:601110 ORPHA:79328 OMIM:300373 ORPHA:2780 OMIM:300990 OMIM:601552 ORPHA:3473 ORPHA:899 OMIM:130070 OMIM:614175 OMIM:300166 OMIM:300989 ORPHA:169186 OMIM:607932 ORPHA:84 ORPHA:2554 ORPHA:1299 OMIM:211380 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:617159 OMIM:154780 OMIM:604841 ORPHA:1427 OMIM:183900 OMIM:108300 OMIM:619239 OMIM:300958 ORPHA:2919 OMIM:174300 ORPHA:35107 OMIM:270400 OMIM:300850 ORPHA:96184 ORPHA:137888 OMIM:615706 OMIM:268305 OMIM:113650 OMIM:618089 ORPHA:2363 ORPHA:87 OMIM:101200 ORPHA:1826 OMIM:612938 OMIM:612474 ORPHA:672 ORPHA:99771 OMIM:617660 ORPHA:352665 ORPHA:453504 OMIM:601492 ORPHA:2189 OMIM:266920 OMIM:300472 ORPHA:60030 OMIM:619472 OMIM:119500 OMIM:119300 ORPHA:3047 OMIM:612292 OMIM:618658 OMIM:616258 OMIM:200990 OMIM:617768 OMIM:617137 OMIM:615942 OMIM:619110 OMIM:618529 OMIM:615802 ORPHA:247262 OMIM:614921 OMIM:619708 OMIM:616531 OMIM:114300 ORPHA:2461 OMIM:616364 OMIM:301030 OMIM:617506 OMIM:619539 ORPHA:2658 OMIM:218600 ORPHA:2636 OMIM:268310 OMIM:612561 OMIM:617412 OMIM:606164 ORPHA:576283 OMIM:607812 ORPHA:506353 OMIM:618768 ORPHA:100050 ORPHA:404440 OMIM:142945 OMIM:619121 OMIM:619314 OMIM:157170 OMIM:222470 OMIM:612350 ORPHA:284984 OMIM:613795 ORPHA:2588 OMIM:618779 ORPHA:2250 OMIM:618622 OMIM:309583 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:619475 ORPHA:168572 OMIM:619480 OMIM:241410 OMIM:188400 OMIM:303400 ORPHA:2753 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:2752 OMIM:603543 ORPHA:69085 OMIM:129400 OMIM:608572 OMIM:300968 OMIM:614091 OMIM:615777 ORPHA:261552 ORPHA:261537
 

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