Phenotype: Abnormal fifth toe morphology (HP:0010322)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: KIAA0753
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2I1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT172
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: CEP120
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT80
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2LI1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2H1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT140
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: WDR19
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2I2
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: TTC21B
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: CC2D2A
disease_id: OMIM:612284
disease_name: MECKEL SYNDROME, TYPE 6
gene_symbol: CC2D2A
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
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: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: GLI3
disease_id: ORPHA:380
disease_name: Greig cephalopolysyndactyly syndrome
GCPS
gene_symbol: GLI3
disease_id: OMIM:174200
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A1
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: IFT27
disease_id: OMIM:615996
disease_name: BARDET-BIEDL SYNDROME 19
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: EVC2
disease_id: OMIM:193530
disease_name: WEYERS ACROFACIAL DYSOSTOSIS
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: EVC
disease_id: OMIM:193530
disease_name: WEYERS ACROFACIAL DYSOSTOSIS
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: SMO
disease_id: OMIM:241800
disease_name: PALLISTER-HALL-LIKE SYNDROME
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: TMEM216
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TXNDC15
disease_id: OMIM:619879
disease_name: MECKEL SYNDROME 14
gene_symbol: TXNDC15
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: TMEM67
disease_id: OMIM:607361
disease_name: MECKEL SYNDROME, TYPE 3
gene_symbol: TMEM67
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
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: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: KIF7
disease_id: OMIM:614120
disease_name: HYDROLETHALUS SYNDROME 2
gene_symbol: RPGRIP1L
disease_id: OMIM:611561
disease_name: MECKEL SYNDROME, TYPE 5
gene_symbol: RPGRIP1L
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN2
disease_id: OMIM:616654
disease_name: JOUBERT SYNDROME 24
gene_symbol: TCTN2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: PLAA
disease_id: ORPHA:521426
disease_name: PLAA-associated neurodevelopmental disorder
PLAAND
gene_symbol: MAX
disease_id: OMIM:620712
disease_name: POLYDACTYLY-MACROCEPHALY SYNDROME
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: SMOC1
disease_id: ORPHA:1106
disease_name: Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: BMP4
disease_id: ORPHA:139471
disease_name: Microphthalmia with brain and digit anomalies
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
gene_symbol: OFD1
disease_id: OMIM:300804
disease_name: JOUBERT SYNDROME 10
gene_symbol: MKKS
disease_id: ORPHA:2473
disease_name: McKusick-Kaufman syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: SUFU
disease_id: OMIM:617757
disease_name: JOUBERT SYNDROME 32
gene_symbol: IFT74
disease_id: OMIM:617119
disease_name: BARDET-BIEDL SYNDROME 20
gene_symbol: TMEM107
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: TCTN3
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D2
disease_id: OMIM:614175
disease_name: MECKEL SYNDROME, TYPE 10
gene_symbol: TCTN1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CSPP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CEP290
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM231
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: MKS1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: TMEM237
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: KIAA0825
disease_id: OMIM:618498
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A10
gene_symbol: IQCE
disease_id: OMIM:617642
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A7
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: PDE6D
disease_id: OMIM:615665
disease_name: JOUBERT SYNDROME 22
gene_symbol: CIBAR1
disease_id: OMIM:618219
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A9
gene_symbol: ZNF141
disease_id: OMIM:615226
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A6
gene_symbol: BBS12
disease_id: OMIM:615989
disease_name: BARDET-BIEDL SYNDROME 12
gene_symbol: BBS9
disease_id: OMIM:615986
disease_name: BARDET-BIEDL SYNDROME 9
gene_symbol: DYNLT2B
disease_id: OMIM:617405
disease_name: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: PIGH
disease_id: OMIM:618010
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: RAB3GAP2
disease_id: OMIM:614225
disease_name: WARBURG MICRO SYNDROME 2
gene_symbol: RNF6
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: TGFBR2
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: WWOX
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: DLEC1
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: CKAP2L
disease_id: ORPHA:3255
disease_name: Filippi syndrome
Type 1 syndactyly-microcephaly-intellectual disability syndrome
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: ERBB2
disease_id: ORPHA:99976
disease_name: Adenocarcinoma of the esophagus
Esophageal adenocarcinoma
gene_symbol: FREM1
disease_id: ORPHA:217266
disease_name: BNAR syndrome
Bifid nose with or without anorectal and renal anomalies
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1