Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated genes and diseases:
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: DDX59
disease_id: ORPHA:2919
disease_name: Orofaciodigital syndrome type 5
OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: KIF7
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: RIPK4
disease_id: ORPHA:1401
disease_name: CHAND syndrome
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
gene_symbol: NR4A2
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: TBR1
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: CTNNB1
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
gene_symbol: TCTN3
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM231
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TOPORS
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PDE6D
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: OFD1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: FLNA
disease_id: ORPHA:88630
disease_name: Terminal osseous dysplasia-pigmentary defects syndrome
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: KIAA0586
disease_id: OMIM:616546
disease_name: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: TELO2
disease_id: OMIM:616954
disease_name: YOU-HOOVER-FONG SYNDROME
gene_symbol: IFT57
disease_id: OMIM:617927
disease_name: OROFACIODIGITAL SYNDROME XVIII
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
gene_symbol: EFTUD2
disease_id: ORPHA:79113
disease_name: Mandibulofacial dysostosis-microcephaly syndrome
MFDM syndrome
Mandibulofacial dysostosis, Guion-Almeida type
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: FREM1
disease_id: ORPHA:217266
disease_name: BNAR syndrome
Bifid nose with or without anorectal and renal anomalies
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: TBX22
disease_id: OMIM:303400
disease_name: CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: RSPO2
disease_id: OMIM:618021
disease_name: TETRAAMELIA SYNDROME 2
gene_symbol: POU4F1
disease_id: OMIM:619352
disease_name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: IRF6
disease_id: ORPHA:888
disease_name: Van der Woude syndrome
Cleft lip/palate with mucous cysts of lower lip
Lip-pit syndrome
VWS
gene_symbol: GRHL3
disease_id: ORPHA:888
disease_name: Van der Woude syndrome
Cleft lip/palate with mucous cysts of lower lip
Lip-pit syndrome
VWS
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:89842
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Generalized RDEB, intermediate form
RDEB, non-Hallopeau-Siemens type
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: MAPK1
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: FAM111A
disease_id: OMIM:602361
disease_name: GRACILE BONE DYSPLASIA
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE