Human Phenotype Ontology 
Grandparent Node:
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Oral cleft (HP:0000202)help
Parent Node:
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Abnormal upper lip morphology (HP:0000177)help
Parent Node:
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Cleft lip (HP:0410030)help
..Starting node
..expand
Cleft upper lip (HP:0000204)help
Term ID: 204
Name: Cleft upper lip
Synonym: Cheiloschisis of upper lip; Cleft of upper lip; Cleft upper lip; Harelip
Definition: A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Comments:
Reference: HP:0000204
Genes and Diseases:
 
       Child Nodes:
........expandMedian cleft lip (HP:0000161) help
................... HP:0008501 Median cleft lip and palate
........expandSubmucous cleft lip (HP:0009101) help
........expandIncomplete cleft of the upper lip (HP:0011340) help
........expandNon-midline cleft lip (HP:0100335) help
................... HP:0100333 Unilateral cleft lip
................... HP:0100336 Bilateral cleft lip

 Sister Nodes: 
..expandCleft lower lip (HP:0010281) 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:0000204HP:0000204Cleft upper lip0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1HP:0040283 - Occasional72
HP:0000204HP:0000204Cleft upper lip0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0000204HP:0000204Cleft upper lip0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0000204HP:0000204Cleft upper lip0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000204HP:0000204Cleft upper lip0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0000204HP:0000204Cleft upper lip0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000204HP:0000204Cleft upper lip0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0000204HP:0000204Cleft upper lip0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0000204HP:0000204Cleft upper lip0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000204HP:0000204Cleft upper lip0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000204HP:0000204Cleft upper lip0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040283 - OccasionalHP:0003577 - Congenital onset247
HP:0000204HP:0000204Cleft upper lip0CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndrome1003
HP:0000204HP:0000204Cleft upper lip0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0000204HP:0000204Cleft upper lip0CDH1 CL E G H9991748OMIM:137215Gastric cancer, hereditary diffuseHP:0040283 - Occasional1003
HP:0000204HP:0000204Cleft upper lip0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0000204HP:0000204Cleft upper lip0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0000204HP:0000204Cleft upper lip0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0000204HP:0000204Cleft upper lip0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0000204HP:0000204Cleft upper lip0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000204HP:0000204Cleft upper lip0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000204HP:0000204Cleft upper lip0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000204HP:0000204Cleft upper lip0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000204HP:0000204Cleft upper lip0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000204HP:0000204Cleft upper lip0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000204HP:0000204Cleft upper lip0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000204HP:0000204Cleft upper lip0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000204HP:0000204Cleft upper lip0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0000204HP:0000204Cleft upper lip0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0000204HP:0000204Cleft upper lip0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000204HP:0000204Cleft upper lip0CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndrome
HP:0000204HP:0000204Cleft upper lip0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0000204HP:0000204Cleft upper lip0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000204HP:0000204Cleft upper lip0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0000204HP:0000204Cleft upper lip0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000204HP:0000204Cleft upper lip0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional33
HP:0000204HP:0000204Cleft upper lip0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosis59
HP:0000204HP:0000204Cleft upper lip0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000204HP:0000204Cleft upper lip0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0000204HP:0000204Cleft upper lip0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0000204HP:0000204Cleft upper lip0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0000204HP:0000204Cleft upper lip0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0000204HP:0000204Cleft upper lip0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0000204HP:0000204Cleft upper lip0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0000204HP:0000204Cleft upper lip0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0000204HP:0000204Cleft upper lip0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0000204HP:0000204Cleft upper lip0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000204HP:0000204Cleft upper lip0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000204HP:0000204Cleft upper lip0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000204HP:0000204Cleft upper lip0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0000204HP:0000204Cleft upper lip0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0000204HP:0000204Cleft upper lip0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000204HP:0000204Cleft upper lip0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000204HP:0000204Cleft upper lip0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0000204HP:0000204Cleft upper lip0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000204HP:0000204Cleft upper lip0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000204HP:0000204Cleft upper lip0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0000204HP:0000204Cleft upper lip0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000204HP:0000204Cleft upper lip0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0000204HP:0000204Cleft upper lip0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000204HP:0000204Cleft upper lip0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000204HP:0000204Cleft upper lip0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0000204HP:0000204Cleft upper lip0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0000204HP:0000204Cleft upper lip0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000204HP:0000204Cleft upper lip0FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateral2
HP:0000204HP:0000204Cleft upper lip0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0000204HP:0000204Cleft upper lip0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0000204HP:0000204Cleft upper lip0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0000204HP:0000204Cleft upper lip0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0000204HP:0000204Cleft upper lip0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndrome172
HP:0000204HP:0000204Cleft upper lip0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000204HP:0000204Cleft upper lip0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000204HP:0000204Cleft upper lip0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0000204HP:0000204Cleft upper lip0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0000204HP:0000204Cleft upper lip0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0000204HP:0000204Cleft upper lip0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000204HP:0000204Cleft upper lip0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000204HP:0000204Cleft upper lip0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional
HP:0000204HP:0000204Cleft upper lip0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000204HP:0000204Cleft upper lip0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000204HP:0000204Cleft upper lip0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040283 - Occasional20
HP:0000204HP:0000204Cleft upper lip0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0000204HP:0000204Cleft upper lip0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0000204HP:0000204Cleft upper lip0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0000204HP:0000204Cleft upper lip0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0000204HP:0000204Cleft upper lip0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0000204HP:0000204Cleft upper lip0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000204HP:0000204Cleft upper lip0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0000204HP:0000204Cleft upper lip0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0000204HP:0000204Cleft upper lip0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000204HP:0000204Cleft upper lip0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0000204HP:0000204Cleft upper lip0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0000204HP:0000204Cleft upper lip0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0000204HP:0000204Cleft upper lip0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0000204HP:0000204Cleft upper lip0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000204HP:0000204Cleft upper lip0GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateral1
HP:0000204HP:0000204Cleft upper lip0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000204HP:0000204Cleft upper lip0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndromeHP:0040283 - Occasional173
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0000204HP:0000204Cleft upper lip0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0000204HP:0000204Cleft upper lip0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000204HP:0000204Cleft upper lip0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0000204HP:0000204Cleft upper lip0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000204HP:0000204Cleft upper lip0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0000204HP:0000204Cleft upper lip0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000204HP:0000204Cleft upper lip0GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateral
HP:0000204HP:0000204Cleft upper lip0GRHL3 CL E G H5782225839ORPHA:888Van der Woude syndromeHP:0040283 - Occasional12
HP:0000204HP:0000204Cleft upper lip0GRHL3 CL E G H5782225839OMIM:606713Van der woude syndrome 2.12
HP:0000204HP:0000204Cleft upper lip0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0000204HP:0000204Cleft upper lip0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000204HP:0000204Cleft upper lip0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000204HP:0000204Cleft upper lip0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0000204HP:0000204Cleft upper lip0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0000204HP:0000204Cleft upper lip0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0000204HP:0000204Cleft upper lip0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0000204HP:0000204Cleft upper lip0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000204HP:0000204Cleft upper lip0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional119
HP:0000204HP:0000204Cleft upper lip0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndrome99
HP:0000204HP:0000204Cleft upper lip0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lip99
HP:0000204HP:0000204Cleft upper lip0IRF6 CL E G H36646121OMIM:608864Orofacial cleft 6, susceptibility to.99
HP:0000204HP:0000204Cleft upper lip0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000204HP:0000204Cleft upper lip0IRF6 CL E G H36646121ORPHA:888Van der Woude syndromeHP:0040283 - Occasional99
HP:0000204HP:0000204Cleft upper lip0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0000204HP:0000204Cleft upper lip0ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateral4
HP:0000204HP:0000204Cleft upper lip0JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040282 - Frequent222
HP:0000204HP:0000204Cleft upper lip0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000204HP:0000204Cleft upper lip0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000204HP:0000204Cleft upper lip0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000204HP:0000204Cleft upper lip0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0000204HP:0000204Cleft upper lip0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000204HP:0000204Cleft upper lip0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000204HP:0000204Cleft upper lip0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0000204HP:0000204Cleft upper lip0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000204HP:0000204Cleft upper lip0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000204HP:0000204Cleft upper lip0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000204HP:0000204Cleft upper lip0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000204HP:0000204Cleft upper lip0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000204HP:0000204Cleft upper lip0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0000204HP:0000204Cleft upper lip0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0000204HP:0000204Cleft upper lip0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000204HP:0000204Cleft upper lip0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lip12
HP:0000204HP:0000204Cleft upper lip0MSX1 CL E G H44877391OMIM:608874OROFACIAL CLEFT 5; OFC512
HP:0000204HP:0000204Cleft upper lip0MSX2 CL E G H44887392OMIM:168500Parietal foramina.45
HP:0000204HP:0000204Cleft upper lip0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000204HP:0000204Cleft upper lip0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0000204HP:0000204Cleft upper lip0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000204HP:0000204Cleft upper lip0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040281 - Very frequent4
HP:0000204HP:0000204Cleft upper lip0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0000204HP:0000204Cleft upper lip0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lip4
HP:0000204HP:0000204Cleft upper lip0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0000204HP:0000204Cleft upper lip0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0000204HP:0000204Cleft upper lip0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000204HP:0000204Cleft upper lip0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000204HP:0000204Cleft upper lip0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0000204HP:0000204Cleft upper lip0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0000204HP:0000204Cleft upper lip0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0000204HP:0000204Cleft upper lip0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0000204HP:0000204Cleft upper lip0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0000204HP:0000204Cleft upper lip0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000204HP:0000204Cleft upper lip0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.34
HP:0000204HP:0000204Cleft upper lip0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0000204HP:0000204Cleft upper lip0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000204HP:0000204Cleft upper lip0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0000204HP:0000204Cleft upper lip0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0000204HP:0000204Cleft upper lip0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040283 - Occasional59
HP:0000204HP:0000204Cleft upper lip0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040281 - Very frequent23
HP:0000204HP:0000204Cleft upper lip0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0000204HP:0000204Cleft upper lip0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000204HP:0000204Cleft upper lip0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0000204HP:0000204Cleft upper lip0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000204HP:0000204Cleft upper lip0PLCH1 CL E G H2300729185OMIM:619895
HP:0000204HP:0000204Cleft upper lip0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0000204HP:0000204Cleft upper lip0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000204HP:0000204Cleft upper lip0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000204HP:0000204Cleft upper lip0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000204HP:0000204Cleft upper lip0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000204HP:0000204Cleft upper lip0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000204HP:0000204Cleft upper lip0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000204HP:0000204Cleft upper lip0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000204HP:0000204Cleft upper lip0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0000204HP:0000204Cleft upper lip0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0000204HP:0000204Cleft upper lip0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0000204HP:0000204Cleft upper lip0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0000204HP:0000204Cleft upper lip0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000204HP:0000204Cleft upper lip0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000204HP:0000204Cleft upper lip0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0000204HP:0000204Cleft upper lip0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0000204HP:0000204Cleft upper lip0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0000204HP:0000204Cleft upper lip0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000204HP:0000204Cleft upper lip0RAB5IF CL E G H5596915870OMIM:616994
HP:0000204HP:0000204Cleft upper lip0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional150
HP:0000204HP:0000204Cleft upper lip0RET CL E G H59799967ORPHA:1848Renal agenesis, bilateral572
HP:0000204HP:0000204Cleft upper lip0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0000204HP:0000204Cleft upper lip0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000204HP:0000204Cleft upper lip0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0000204HP:0000204Cleft upper lip0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 640
HP:0000204HP:0000204Cleft upper lip0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000204HP:0000204Cleft upper lip0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0000204HP:0000204Cleft upper lip0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000204HP:0000204Cleft upper lip0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000204HP:0000204Cleft upper lip0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000204HP:0000204Cleft upper lip0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0000204HP:0000204Cleft upper lip0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0000204HP:0000204Cleft upper lip0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0000204HP:0000204Cleft upper lip0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0000204HP:0000204Cleft upper lip0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0000204HP:0000204Cleft upper lip0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0000204HP:0000204Cleft upper lip0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000204HP:0000204Cleft upper lip0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0000204HP:0000204Cleft upper lip0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0000204HP:0000204Cleft upper lip0SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0000204HP:0000204Cleft upper lip0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0000204HP:0000204Cleft upper lip0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0000204HP:0000204Cleft upper lip0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0000204HP:0000204Cleft upper lip0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0000204HP:0000204Cleft upper lip0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000204HP:0000204Cleft upper lip0SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 1.6
HP:0000204HP:0000204Cleft upper lip0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000204HP:0000204Cleft upper lip0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0000204HP:0000204Cleft upper lip0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0000204HP:0000204Cleft upper lip0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0000204HP:0000204Cleft upper lip0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0000204HP:0000204Cleft upper lip0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0000204HP:0000204Cleft upper lip0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0000204HP:0000204Cleft upper lip0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0000204HP:0000204Cleft upper lip0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000204HP:0000204Cleft upper lip0SUMO1 CL E G H734112502OMIM:613705Orofacial cleft 108
HP:0000204HP:0000204Cleft upper lip0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000204HP:0000204Cleft upper lip0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000204HP:0000204Cleft upper lip0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0000204HP:0000204Cleft upper lip0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0000204HP:0000204Cleft upper lip0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0000204HP:0000204Cleft upper lip0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0000204HP:0000204Cleft upper lip0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0000204HP:0000204Cleft upper lip0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0000204HP:0000204Cleft upper lip0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0000204HP:0000204Cleft upper lip0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000204HP:0000204Cleft upper lip0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000204HP:0000204Cleft upper lip0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 432
HP:0000204HP:0000204Cleft upper lip0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0000204HP:0000204Cleft upper lip0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040283 - Occasional6
HP:0000204HP:0000204Cleft upper lip0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000204HP:0000204Cleft upper lip0TP63 CL E G H862615979ORPHA:1072Ankyloblepharon filiforme adnatum-cleft palate syndrome140
HP:0000204HP:0000204Cleft upper lip0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000204HP:0000204Cleft upper lip0TP63 CL E G H862615979ORPHA:199302Isolated cleft lip140
HP:0000204HP:0000204Cleft upper lip0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000204HP:0000204Cleft upper lip0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13HP:0040283 - Occasional158
HP:0000204HP:0000204Cleft upper lip0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000204HP:0000204Cleft upper lip0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5
HP:0000204HP:0000204Cleft upper lip0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0000204HP:0000204Cleft upper lip0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000204HP:0000204Cleft upper lip0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0000204HP:0000204Cleft upper lip0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000204HP:0000204Cleft upper lip0WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateral
HP:0000204HP:0000204Cleft upper lip0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardationHP:0040283 - Occasional2
HP:0000204HP:0000204Cleft upper lip0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0000204HP:0000204Cleft upper lip0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0000204HP:0000204Cleft upper lip0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0000204HP:0000204Cleft upper lip0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0000204HP:0000204Cleft upper lip0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0000204HP:0000204Cleft upper lip0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0000204HP:0000204Cleft upper lip0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasia5
HP:0000204HP:0000161Median cleft lip1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000204HP:0100335Non-midline cleft lip1B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0000204HP:0100335Non-midline cleft lip1CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndrome1003
HP:0000204HP:0000161Median cleft lip1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000204HP:0000161Median cleft lip1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000204HP:0000161Median cleft lip1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000204HP:0000161Median cleft lip1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000204HP:0100335Non-midline cleft lip1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000204HP:0100335Non-midline cleft lip1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000204HP:0000161Median cleft lip1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000204HP:0011340Incomplete cleft of the upper lip1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000204HP:0100335Non-midline cleft lip1CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndrome
HP:0000204HP:0100335Non-midline cleft lip1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000204HP:0000161Median cleft lip1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040281 - Very frequent2
HP:0000204HP:0000161Median cleft lip1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0000204HP:0100335Non-midline cleft lip1DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040282 - Frequent59
HP:0000204HP:0000161Median cleft lip1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000204HP:0000161Median cleft lip1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000204HP:0000161Median cleft lip1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000204HP:0000161Median cleft lip1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000204HP:0000161Median cleft lip1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000204HP:0000161Median cleft lip1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000204HP:0000161Median cleft lip1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000204HP:0000161Median cleft lip1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000204HP:0100335Non-midline cleft lip1DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000204HP:0000161Median cleft lip1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000204HP:0000161Median cleft lip1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000204HP:0000161Median cleft lip1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0000204HP:0000161Median cleft lip1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000204HP:0000161Median cleft lip1FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0000204HP:0100335Non-midline cleft lip1FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateralHP:0040283 - Occasional2
HP:0000204HP:0000161Median cleft lip1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000204HP:0000161Median cleft lip1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000204HP:0000161Median cleft lip1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000204HP:0000161Median cleft lip1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000204HP:0100335Non-midline cleft lip1FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000204HP:0000161Median cleft lip1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000204HP:0000161Median cleft lip1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000204HP:0000161Median cleft lip1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000204HP:0000161Median cleft lip1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000204HP:0000161Median cleft lip1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000204HP:0000161Median cleft lip1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000204HP:0000161Median cleft lip1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000204HP:0000161Median cleft lip1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000204HP:0000161Median cleft lip1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000204HP:0000161Median cleft lip1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000204HP:0000161Median cleft lip1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000204HP:0000161Median cleft lip1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000204HP:0100335Non-midline cleft lip1GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000204HP:0100335Non-midline cleft lip1GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateralHP:0040283 - Occasional1
HP:0000204HP:0100335Non-midline cleft lip1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0000204HP:0000161Median cleft lip1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000204HP:0000161Median cleft lip1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000204HP:0000161Median cleft lip1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000204HP:0100335Non-midline cleft lip1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000204HP:0000161Median cleft lip1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000204HP:0000161Median cleft lip1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000204HP:0000161Median cleft lip1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000204HP:0009101Submucous cleft lip1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000204HP:0009101Submucous cleft lip1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000204HP:0100335Non-midline cleft lip1GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateralHP:0040283 - Occasional
HP:0000204HP:0000161Median cleft lip1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000204HP:0000161Median cleft lip1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000204HP:0100335Non-midline cleft lip1HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000204HP:0100335Non-midline cleft lip1HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0000204HP:0000161Median cleft lip1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 1.31
HP:0000204HP:0000161Median cleft lip1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000204HP:0100335Non-midline cleft lip1IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0000204HP:0100335Non-midline cleft lip1IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040282 - Frequent99
HP:0000204HP:0100335Non-midline cleft lip1ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateralHP:0040283 - Occasional4
HP:0000204HP:0100335Non-midline cleft lip1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000204HP:0100335Non-midline cleft lip1KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0000204HP:0000161Median cleft lip1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000204HP:0100335Non-midline cleft lip1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000204HP:0100335Non-midline cleft lip1MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000204HP:0100335Non-midline cleft lip1MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040282 - Frequent12
HP:0000204HP:0100335Non-midline cleft lip1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0000204HP:0100335Non-midline cleft lip1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000204HP:0100335Non-midline cleft lip1NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040282 - Frequent4
HP:0000204HP:0000161Median cleft lip1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0000204HP:0000161Median cleft lip1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0000204HP:0000161Median cleft lip1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000204HP:0000161Median cleft lip1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0000204HP:0000161Median cleft lip1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000204HP:0000161Median cleft lip1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000204HP:0000161Median cleft lip1NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0000204HP:0000161Median cleft lip1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000204HP:0000161Median cleft lip1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040281 - Very frequent201
HP:0000204HP:0000161Median cleft lip1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0000204HP:0000161Median cleft lip1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0000204HP:0100335Non-midline cleft lip1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0000204HP:0000161Median cleft lip1PLCH1 CL E G H2300729185OMIM:619895
HP:0000204HP:0000161Median cleft lip1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000204HP:0000161Median cleft lip1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0000204HP:0000161Median cleft lip1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0000204HP:0000161Median cleft lip1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000204HP:0100335Non-midline cleft lip1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000204HP:0000161Median cleft lip1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000204HP:0000161Median cleft lip1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0000204HP:0000161Median cleft lip1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000204HP:0000161Median cleft lip1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000204HP:0100335Non-midline cleft lip1RAB5IF CL E G H5596915870OMIM:616994
HP:0000204HP:0100335Non-midline cleft lip1RET CL E G H59799967ORPHA:1848Renal agenesis, bilateralHP:0040283 - Occasional572
HP:0000204HP:0000161Median cleft lip1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0000204HP:0100335Non-midline cleft lip1RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0000204HP:0100335Non-midline cleft lip1SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040283 - Occasional49
HP:0000204HP:0000161Median cleft lip1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000204HP:0000161Median cleft lip1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0000204HP:0000161Median cleft lip1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000204HP:0000161Median cleft lip1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000204HP:0000161Median cleft lip1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000204HP:0100335Non-midline cleft lip1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000204HP:0000161Median cleft lip1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0000204HP:0100335Non-midline cleft lip1SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0000204HP:0000161Median cleft lip1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000204HP:0000161Median cleft lip1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0000204HP:0100335Non-midline cleft lip1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000204HP:0100335Non-midline cleft lip1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000204HP:0000161Median cleft lip1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000204HP:0000161Median cleft lip1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0000204HP:0000161Median cleft lip1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000204HP:0000161Median cleft lip1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000204HP:0000161Median cleft lip1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0000204HP:0000161Median cleft lip1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000204HP:0000161Median cleft lip1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000204HP:0100335Non-midline cleft lip1SUMO1 CL E G H734112502OMIM:613705Orofacial cleft 108
HP:0000204HP:0100335Non-midline cleft lip1TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000204HP:0000161Median cleft lip1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000204HP:0000161Median cleft lip1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000204HP:0000161Median cleft lip1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0000204HP:0000161Median cleft lip1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000204HP:0000161Median cleft lip1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000204HP:0100335Non-midline cleft lip1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040282 - Frequent12
HP:0000204HP:0000161Median cleft lip1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0000204HP:0000161Median cleft lip1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0000161Median cleft lip1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000204HP:0100335Non-midline cleft lip1TP63 CL E G H862615979ORPHA:1072Ankyloblepharon filiforme adnatum-cleft palate syndromeHP:0040283 - Occasional140
HP:0000204HP:0100335Non-midline cleft lip1TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040282 - Frequent140
HP:0000204HP:0000161Median cleft lip1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000204HP:0000161Median cleft lip1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0000204HP:0100335Non-midline cleft lip1WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateralHP:0040283 - Occasional
HP:0000204HP:0100335Non-midline cleft lip1YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0000204HP:0000161Median cleft lip1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000204HP:0000161Median cleft lip1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0000204HP:0000161Median cleft lip1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000204HP:0000161Median cleft lip1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0000204HP:0000161Median cleft lip1ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040282 - Frequent5
HP:0000204HP:0100336Bilateral cleft lip2CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndrome1003
HP:0000204HP:0100336Bilateral cleft lip2CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000204HP:0100336Bilateral cleft lip2CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000204HP:0100336Bilateral cleft lip2CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndrome
HP:0000204HP:0100336Bilateral cleft lip2DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000204HP:0008501Median cleft lip and palate2DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000204HP:0008501Median cleft lip and palate2DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000204HP:0008501Median cleft lip and palate2FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040281 - Very frequent35
HP:0000204HP:0008501Median cleft lip and palate2FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0000204HP:0008501Median cleft lip and palate2FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000204HP:0100333Unilateral cleft lip2GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000204HP:0008501Median cleft lip and palate2GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0000204HP:0100336Bilateral cleft lip2GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000204HP:0034185Median pseudocleft lip2H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000204HP:0008501Median cleft lip and palate2HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0000204HP:0100333Unilateral cleft lip2HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0000204HP:0100336Bilateral cleft lip2IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040283 - Occasional99
HP:0000204HP:0100333Unilateral cleft lip2KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000204HP:0100333Unilateral cleft lip2KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0000204HP:0008501Median cleft lip and palate2LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0000204HP:0100336Bilateral cleft lip2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000204HP:0100333Unilateral cleft lip2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000204HP:0100333Unilateral cleft lip2MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0000204HP:0100336Bilateral cleft lip2MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040283 - Occasional12
HP:0000204HP:0100336Bilateral cleft lip2NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000204HP:0100336Bilateral cleft lip2NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040283 - Occasional4
HP:0000204HP:0008501Median cleft lip and palate2OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0000204HP:0008501Median cleft lip and palate2POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0000204HP:0008501Median cleft lip and palate2PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0000204HP:0008501Median cleft lip and palate2PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000204HP:0100336Bilateral cleft lip2PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000204HP:0100336Bilateral cleft lip2RAB5IF CL E G H5596915870OMIM:616994
HP:0000204HP:0100336Bilateral cleft lip2RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000204HP:0100336Bilateral cleft lip2SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000204HP:0008501Median cleft lip and palate2SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0000204HP:0008501Median cleft lip and palate2SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040282 - Frequent178
HP:0000204HP:0100333Unilateral cleft lip2SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040283 - Occasional504
HP:0000204HP:0100336Bilateral cleft lip2SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000204HP:0100336Bilateral cleft lip2SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000204HP:0100333Unilateral cleft lip2SUMO1 CL E G H734112502OMIM:613705Orofacial cleft 10.8
HP:0000204HP:0100333Unilateral cleft lip2TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000204HP:0008501Median cleft lip and palate2TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0000204HP:0100336Bilateral cleft lip2TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040283 - Occasional140
HP:0000204HP:0034185Median pseudocleft lip2WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000204HP:0008501Median cleft lip and palate2WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000204HP:0100336Bilateral cleft lip2YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0000204HP:0002744Bilateral cleft lip and palate3CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040281 - Very frequent1003
HP:0000204HP:0002744Bilateral cleft lip and palate3CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000204HP:0002744Bilateral cleft lip and palate3CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040281 - Very frequent
HP:0000204HP:0002744Bilateral cleft lip and palate3GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000204HP:0002744Bilateral cleft lip and palate3MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000204HP:0002744Bilateral cleft lip and palate3NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040281 - Very frequent4
HP:0000204HP:0002744Bilateral cleft lip and palate3PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000204HP:0002744Bilateral cleft lip and palate3SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000204HP:0002744Bilateral cleft lip and palate3SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000204HP:0002744Bilateral cleft lip and palate3YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040282 - Frequent2


Genes (167) :ACTB ALX3 AMER1 ARHGAP31 ASXL1 B3GALT6 B3GLCT BCOR CC2D2A CDH1 CDON CHD7 CHUK CILK1 COLEC10 COLEC11 CPLANE1 CPLX1 CTBP1 CTNND1 CYP26C1 DDX3X DDX59 DEAF1 DHODH DISP1 DLL1 DLX4 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFNB1 EPG5 ESCO2 EVC EVC2 FAM20C FGD1 FGF20 FGF8 FGFR1 FGFRL1 FKRP FKTN FLII FLNB FOXA2 FOXC2 FOXH1 FRAS1 FREM2 FZD2 GAS1 GDF11 GFRA1 GJA1 GLI2 GLI3 GPC3 GPC4 GREB1L GRHL3 GRIP1 H4C3 HESX1 HOXD13 HYLS1 IFT80 INTU IQSEC2 IRF6 ITGA8 JUP KANSL1 KAT5 KIF7 LARGE1 LETM1 LHX4 LMX1B MASP1 MED12 MEIS2 MEOX1 MID1 MSX1 MSX2 NAA10 NBN NECTIN1 NEK1 NELFA NIPBL NODAL NSD2 NSDHL NUAK2 OFD1 OTX2 PAX3 PHF8 PHGDH PIGG PIGN PIGV PLCH1 POLR1B POLR1C POLR1D POMT1 POMT2 PORCN POU1F1 PROKR2 PROP1 PTCH1 PTCH2 RAB5IF RAI1 RET RIPK4 RPGRIP1L RPL5 RPS19 RSPO2 SEMA3E SF3B2 SF3B4 SHH SIX3 SLC29A3 SLC2A10 SMAD4 SMC1A SMO SMOC1 SMPD4 SPECC1L SPOP STAG2 STIL SUFU SUMO1 TAPT1 TCOF1 TCTN2 TCTN3 TDGF1 TFAP2A TGDS TGIF1 TMCO1 TP63 TRAPPC9 TXNL4A VAX1 WDR35 WLS WNT3 WNT5A WNT9B YAP1 ZIC2 ZSWIM6

Diseases (159) :OMIM:243310 OMIM:607371 OMIM:136760 OMIM:300373 OMIM:100300 OMIM:605039 ORPHA:2725 ORPHA:709 OMIM:261540 OMIM:309800 OMIM:612284 ORPHA:1997 OMIM:119580 OMIM:137215 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:138 OMIM:214800 OMIM:619339 OMIM:612651 OMIM:248340 OMIM:265050 OMIM:277170 ORPHA:280 OMIM:194190 ORPHA:398189 OMIM:300958 ORPHA:2919 OMIM:174300 ORPHA:819 ORPHA:246 OMIM:263750 OMIM:616788 ORPHA:3107 OMIM:613091 ORPHA:93271 OMIM:617088 OMIM:304110 OMIM:242840 OMIM:216100 OMIM:268300 ORPHA:3103 OMIM:225500 ORPHA:1832 ORPHA:915 OMIM:305400 ORPHA:1848 ORPHA:2117 OMIM:615465 OMIM:147950 OMIM:236670 OMIM:150250 ORPHA:95494 ORPHA:33001 OMIM:153400 OMIM:219000 ORPHA:2052 OMIM:619122 ORPHA:2710 OMIM:164200 OMIM:615849 OMIM:610829 OMIM:146510 ORPHA:373 OMIM:312870 ORPHA:888 OMIM:606713 OMIM:619758 ORPHA:887 ORPHA:2189 OMIM:236680 OMIM:617926 ORPHA:1300 ORPHA:199302 OMIM:608864 OMIM:119500 OMIM:119300 ORPHA:34217 OMIM:610443 OMIM:619103 OMIM:200990 OMIM:161200 OMIM:257920 OMIM:301068 OMIM:305450 OMIM:600987 OMIM:214300 OMIM:300000 OMIM:608874 OMIM:168500 ORPHA:647 OMIM:251260 ORPHA:3253 OMIM:225060 ORPHA:2751 OMIM:263520 OMIM:122470 OMIM:308050 OMIM:619452 OMIM:311200 ORPHA:2750 ORPHA:894 ORPHA:85287 OMIM:256520 ORPHA:2059 OMIM:239300 OMIM:619895 ORPHA:861 OMIM:613150 OMIM:305600 OMIM:244200 OMIM:109400 OMIM:610828 OMIM:616994 ORPHA:1234 OMIM:263650 OMIM:611561 OMIM:612561 OMIM:105650 OMIM:618021 OMIM:164210 OMIM:154400 ORPHA:245 OMIM:147250 OMIM:157170 ORPHA:168569 ORPHA:3342 ORPHA:2588 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:618622 OMIM:600251 OMIM:618829 OMIM:301043 OMIM:613705 OMIM:616897 OMIM:613885 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:616145 OMIM:142946 ORPHA:1394 OMIM:213980 ORPHA:1072 OMIM:106260 OMIM:129400 OMIM:613192 OMIM:608572 OMIM:614402 OMIM:619648 OMIM:273395 OMIM:120433 ORPHA:1473 OMIM:603671 ORPHA:1827
 

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