Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal soft palate morphology (HP:0100736)help
Parent Node:
expand
Abnormal uvula morphology (HP:0000172)help
..Starting node
..expand
Bifid uvula (HP:0000193)help
Term ID: 193
Name: Bifid uvula
Synonym: Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida
Definition: Uvula separated into two parts most easily seen at the tip.
Comments:
Reference: HP:0000193
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of uvular muscle (HP:0430017) help
..expandAplasia/Hypoplasia of the uvula (HP:0010293) help
..expandBroad uvula (HP:0010809) help
..expandLong uvula (HP:0010810) help
..expandNarrow uvula (HP:0010811) 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:0000193HP:0000193Bifid uvula0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000193HP:0000193Bifid uvula0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000193HP:0000193Bifid uvula0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000193HP:0000193Bifid uvula0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040282 - Frequent34
HP:0000193HP:0000193Bifid uvula0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000193HP:0000193Bifid uvula0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000193HP:0000193Bifid uvula0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000193HP:0000193Bifid uvula0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000193HP:0000193Bifid uvula0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000193HP:0000193Bifid uvula0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000193HP:0000193Bifid uvula0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0000193HP:0000193Bifid uvula0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000193HP:0000193Bifid uvula0BGN CL E G H6331044OMIM:300989Meester-Loeys syndrome.7
HP:0000193HP:0000193Bifid uvula0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000193HP:0000193Bifid uvula0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 6.38
HP:0000193HP:0000193Bifid uvula0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional9
HP:0000193HP:0000193Bifid uvula0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional31
HP:0000193HP:0000193Bifid uvula0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000193HP:0000193Bifid uvula0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000193HP:0000193Bifid uvula0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000193HP:0000193Bifid uvula0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0000193HP:0000193Bifid uvula0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000193HP:0000193Bifid uvula0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000193HP:0000193Bifid uvula0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional50
HP:0000193HP:0000193Bifid uvula0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000193HP:0000193Bifid uvula0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000193HP:0000193Bifid uvula0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000193HP:0000193Bifid uvula0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0000193HP:0000193Bifid uvula0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0000193HP:0000193Bifid uvula0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000193HP:0000193Bifid uvula0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000193HP:0000193Bifid uvula0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000193HP:0000193Bifid uvula0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000193HP:0000193Bifid uvula0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000193HP:0000193Bifid uvula0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000193HP:0000193Bifid uvula0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000193HP:0000193Bifid uvula0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome VHP:0040283 - Occasional2
HP:0000193HP:0000193Bifid uvula0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0000193HP:0000193Bifid uvula0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000193HP:0000193Bifid uvula0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000193HP:0000193Bifid uvula0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0000193HP:0000193Bifid uvula0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000193HP:0000193Bifid uvula0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000193HP:0000193Bifid uvula0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000193HP:0000193Bifid uvula0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000193HP:0000193Bifid uvula0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000193HP:0000193Bifid uvula0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0000193HP:0000193Bifid uvula0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000193HP:0000193Bifid uvula0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000193HP:0000193Bifid uvula0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000193HP:0000193Bifid uvula0EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 3.6
HP:0000193HP:0000193Bifid uvula0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000193HP:0000193Bifid uvula0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000193HP:0000193Bifid uvula0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0000193HP:0000193Bifid uvula0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0000193HP:0000193Bifid uvula0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000193HP:0000193Bifid uvula0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0000193HP:0000193Bifid uvula0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000193HP:0000193Bifid uvula0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000193HP:0000193Bifid uvula0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0000193HP:0000193Bifid uvula0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000193HP:0000193Bifid uvula0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0000193HP:0000193Bifid uvula0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000193HP:0000193Bifid uvula0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0000193HP:0000193Bifid uvula0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0000193HP:0000193Bifid uvula0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000193HP:0000193Bifid uvula0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000193HP:0000193Bifid uvula0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0000193HP:0000193Bifid uvula0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000193HP:0000193Bifid uvula0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0000193HP:0000193Bifid uvula0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000193HP:0000193Bifid uvula0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000193HP:0000193Bifid uvula0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000193HP:0000193Bifid uvula0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000193HP:0000193Bifid uvula0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0000193HP:0000193Bifid uvula0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000193HP:0000193Bifid uvula0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000193HP:0000193Bifid uvula0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000193HP:0000193Bifid uvula0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000193HP:0000193Bifid uvula0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000193HP:0000193Bifid uvula0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0000193HP:0000193Bifid uvula0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000193HP:0000193Bifid uvula0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000193HP:0000193Bifid uvula0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000193HP:0000193Bifid uvula0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional3
HP:0000193HP:0000193Bifid uvula0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000193HP:0000193Bifid uvula0GRHL3 CL E G H5782225839ORPHA:99771Bifid uvulaHP:0040280 - Obligate12
HP:0000193HP:0000193Bifid uvula0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0000193HP:0000193Bifid uvula0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000193HP:0000193Bifid uvula0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000193HP:0000193Bifid uvula0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0000193HP:0000193Bifid uvula0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0000193HP:0000193Bifid uvula0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactylyHP:0040284 - Very rare148
HP:0000193HP:0000193Bifid uvula0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000193HP:0000193Bifid uvula0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000193HP:0000193Bifid uvula0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000193HP:0000193Bifid uvula0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0000193HP:0000193Bifid uvula0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0000193HP:0000193Bifid uvula0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0000193HP:0000193Bifid uvula0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000193HP:0000193Bifid uvula0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000193HP:0000193Bifid uvula0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000193HP:0000193Bifid uvula0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000193HP:0000193Bifid uvula0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12HP:0040283 - Occasional9
HP:0000193HP:0000193Bifid uvula0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000193HP:0000193Bifid uvula0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0000193HP:0000193Bifid uvula0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0000193HP:0000193Bifid uvula0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0000193HP:0000193Bifid uvula0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0000193HP:0000193Bifid uvula0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000193HP:0000193Bifid uvula0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000193HP:0000193Bifid uvula0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 4413
HP:0000193HP:0000193Bifid uvula0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000193HP:0000193Bifid uvula0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000193HP:0000193Bifid uvula0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0000193HP:0000193Bifid uvula0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000193HP:0000193Bifid uvula0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000193HP:0000193Bifid uvula0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional53
HP:0000193HP:0000193Bifid uvula0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional21
HP:0000193HP:0000193Bifid uvula0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional39
HP:0000193HP:0000193Bifid uvula0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000193HP:0000193Bifid uvula0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000193HP:0000193Bifid uvula0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000193HP:0000193Bifid uvula0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0000193HP:0000193Bifid uvula0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000193HP:0000193Bifid uvula0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0000193HP:0000193Bifid uvula0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000193HP:0000193Bifid uvula0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000193HP:0000193Bifid uvula0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000193HP:0000193Bifid uvula0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000193HP:0000193Bifid uvula0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000193HP:0000193Bifid uvula0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000193HP:0000193Bifid uvula0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000193HP:0000193Bifid uvula0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000193HP:0000193Bifid uvula0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndromeHP:0040284 - Very rare2
HP:0000193HP:0000193Bifid uvula0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0000193HP:0000193Bifid uvula0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0000193HP:0000193Bifid uvula0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0000193HP:0000193Bifid uvula0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0000193HP:0000193Bifid uvula0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0000193HP:0000193Bifid uvula0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000193HP:0000193Bifid uvula0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000193HP:0000193Bifid uvula0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0000193HP:0000193Bifid uvula0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000193HP:0000193Bifid uvula0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000193HP:0000193Bifid uvula0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0000193HP:0000193Bifid uvula0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000193HP:0000193Bifid uvula0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0000193HP:0000193Bifid uvula0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0000193HP:0000193Bifid uvula0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000193HP:0000193Bifid uvula0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1
HP:0000193HP:0000193Bifid uvula0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000193HP:0000193Bifid uvula0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000193HP:0000193Bifid uvula0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000193HP:0000193Bifid uvula0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0000193HP:0000193Bifid uvula0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasiaHP:0040283 - Occasional2
HP:0000193HP:0000193Bifid uvula0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent
HP:0000193HP:0000193Bifid uvula0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000193HP:0000193Bifid uvula0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000193HP:0000193Bifid uvula0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000193HP:0000193Bifid uvula0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0000193HP:0000193Bifid uvula0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0000193HP:0000193Bifid uvula0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000193HP:0000193Bifid uvula0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000193HP:0000193Bifid uvula0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000193HP:0000193Bifid uvula0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000193HP:0000193Bifid uvula0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000193HP:0000193Bifid uvula0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000193HP:0000193Bifid uvula0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0000193HP:0000193Bifid uvula0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000193HP:0000193Bifid uvula0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000193HP:0000193Bifid uvula0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000193HP:0000193Bifid uvula0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0000193HP:0000193Bifid uvula0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000193HP:0000193Bifid uvula0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000193HP:0000193Bifid uvula0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000193HP:0000193Bifid uvula0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040283 - Occasional504
HP:0000193HP:0000193Bifid uvula0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000193HP:0000193Bifid uvula0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000193HP:0000193Bifid uvula0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040283 - Occasional174
HP:0000193HP:0000193Bifid uvula0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000193HP:0000193Bifid uvula0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000193HP:0000193Bifid uvula0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000193HP:0000193Bifid uvula0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000193HP:0000193Bifid uvula0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000193HP:0000193Bifid uvula0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000193HP:0000193Bifid uvula0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040283 - Occasional14
HP:0000193HP:0000193Bifid uvula0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000193HP:0000193Bifid uvula0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000193HP:0000193Bifid uvula0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000193HP:0000193Bifid uvula0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0000193HP:0000193Bifid uvula0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000193HP:0000193Bifid uvula0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000193HP:0000193Bifid uvula0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000193HP:0000193Bifid uvula0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000193HP:0000193Bifid uvula0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000193HP:0000193Bifid uvula0TBX22 CL E G H5094511600OMIM:303400Cleft palate, X-linked.28
HP:0000193HP:0000193Bifid uvula0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0000193HP:0000193Bifid uvula0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000193HP:0000193Bifid uvula0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0000193HP:0000193Bifid uvula0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000193HP:0000193Bifid uvula0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000193HP:0000193Bifid uvula0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000193HP:0000193Bifid uvula0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000193HP:0000193Bifid uvula0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000193HP:0000193Bifid uvula0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000193HP:0000193Bifid uvula0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000193HP:0000193Bifid uvula0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000193HP:0000193Bifid uvula0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000193HP:0000193Bifid uvula0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0000193HP:0000193Bifid uvula0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000193HP:0000193Bifid uvula0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000193HP:0000193Bifid uvula0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0000193HP:0000193Bifid uvula0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0000193HP:0000193Bifid uvula0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0000193HP:0000193Bifid uvula0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000193HP:0000193Bifid uvula0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000193HP:0000193Bifid uvula0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000193HP:0000193Bifid uvula0UBB CL E G H731412463ORPHA:99771Bifid uvulaHP:0040280 - Obligate
HP:0000193HP:0000193Bifid uvula0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0000193HP:0000193Bifid uvula0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2HP:0040284 - Very rare14
HP:0000193HP:0000193Bifid uvula0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0000193HP:0000193Bifid uvula0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362
HP:0000193HP:0000193Bifid uvula0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000193HP:0000193Bifid uvula0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0000193HP:0000193Bifid uvula0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000193HP:0000193Bifid uvula0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34


Genes (155) :ALG3 ALG9 AMER1 AMMECR1 ASPH ATP6V1B2 B3GALNT2 B4GALT7 B4GAT1 B9D2 BCOR BGN BIN1 BMP4 CDC45 CDC6 CDH11 CDON CDT1 CHD4 COL11A1 COL11A2 COL2A1 COL4A1 CRPPA CUL3 DAG1 DDX3X DDX59 DHCR24 DHCR7 DISP1 DLG3 DLK1 DLL1 EDN1 EIF4A3 EYA1 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 MAP3K7 MEG3 METTL23 MYL11 NODAL ORC1 ORC4 ORC6 PGAP1 PGAP2 PGAP3 PGM1 PIEZO2 PIGL PIGO PIGV PIGW PIGY PLCB4 PLCH1 POGZ POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PTCH1 PTDSS1 RECQL4 RNU4ATAC RPL5 RPS23 RPS28 RTL1 RXYLT1 RYR1 SATB2 SEC23A SELENOI SETD5 SHH SHMT2 SIAH1 SIX1 SIX3 SKIC3 SLC39A13 SMAD3 SMAD4 SMARCD1 SMC1A SMCHD1 SMPD4 SMS SNRPN SON SPEG STAC3 STAG2 STIL SUPT16H TBCE TBX1 TBX22 TCTN3 TDGF1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TMEM231 TP63 TTN TXNL4A UBB USP9X XYLT1 ZEB2 ZIC2

Diseases (122) :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: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:615802 ORPHA:247262 OMIM:614921 OMIM:114300 ORPHA:2461 OMIM:616364 OMIM:301030 OMIM:617506 ORPHA:2658 OMIM:218600 ORPHA:2636 OMIM:612561 OMIM:617412 OMIM:606164 ORPHA:576283 OMIM:607812 ORPHA:506353 OMIM:618768 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 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: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.