Phenotype: Broad hallux (HP:0010055)
Associated genes and diseases:
gene_symbol: EBP
disease_id: ORPHA:401973
disease_name: MEND syndrome
Male EBP disorder with neurological defects
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: NOG
disease_id: OMIM:184460
disease_name: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: USP9X
disease_id: OMIM:300919
disease_name: MENTAL RETARDATION, X-LINKED 99
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT SYNDROME
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: NXN
disease_id: OMIM:618529
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: WDPCP
disease_id: OMIM:217085
disease_name: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
gene_symbol: ACAN
disease_id: OMIM:165800
disease_name: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
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: TWIST1
disease_id: OMIM:180750
disease_name: ROBINOW-SORAUF SYNDROME
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: PPP2R1A
disease_id: ORPHA:457284
disease_name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: GLI3
disease_id: OMIM:174200
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A1
gene_symbol: FGF9
disease_id: OMIM:612961
disease_name: MULTIPLE SYNOSTOSES SYNDROME 3
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: FLNA
disease_id: OMIM:300321
disease_name: FG SYNDROME 2
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 2
gene_symbol: TNNT3
disease_id: OMIM:618435
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B2
gene_symbol: FGFR1
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: NKX2-5
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: TBX1
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: NKX2-6
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: GATA6
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: DLX5
disease_id: OMIM:183600
disease_name: SPLIT-HAND/FOOT MALFORMATION 1
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
gene_symbol: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: KIAA0753
disease_id: OMIM:617127
disease_name: OROFACIODIGITAL SYNDROME XV
gene_symbol: TAF6
disease_id: OMIM:617126
disease_name: ALAZAMI-YUAN SYNDROME
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: LRP4
disease_id: OMIM:212780
disease_name: CENANI-LENZ SYNDACTYLY SYNDROME