TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal ciliary motility (HP:0012262)
Associated genes and diseases:
gene_symbol: DNAH11
disease_id: OMIM:611884
disease_name: CILIARY DYSKINESIA, PRIMARY, 7
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
gene_symbol: NME8
disease_id: OMIM:610852
disease_name: CILIARY DYSKINESIA, PRIMARY, 6
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: RSPH1
disease_id: OMIM:615481
disease_name: CILIARY DYSKINESIA, PRIMARY, 24
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: TTC12
disease_id: OMIM:618801
disease_name: CILIARY DYSKINESIA, PRIMARY, 45
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: DRC1
disease_id: OMIM:615294
disease_name: CILIARY DYSKINESIA, PRIMARY, 21
gene_symbol: ODAD2
disease_id: OMIM:615451
disease_name: CILIARY DYSKINESIA, PRIMARY, 23
gene_symbol: CCNO
disease_id: OMIM:615872
disease_name: CILIARY DYSKINESIA, PRIMARY, 29
gene_symbol: DRC4
disease_id: OMIM:616726
disease_name: CILIARY DYSKINESIA, PRIMARY, 33
gene_symbol: STK36
disease_id: OMIM:619436
disease_name: CILIARY DYSKINESIA, PRIMARY, 46
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: DNAAF19
disease_id: OMIM:614679
disease_name: CILIARY DYSKINESIA, PRIMARY, 17
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAH5
disease_id: OMIM:608644
disease_name: CILIARY DYSKINESIA, PRIMARY, 3
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: DNAAF2
disease_id: OMIM:612518
disease_name: CILIARY DYSKINESIA, PRIMARY, 10
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
Phenotype: Immotile cilia (HP:0012263)
Associated genes and diseases:
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: RSPH1
disease_id: OMIM:615481
disease_name: CILIARY DYSKINESIA, PRIMARY, 24
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: TTC12
disease_id: OMIM:618801
disease_name: CILIARY DYSKINESIA, PRIMARY, 45
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
Phenotype: Prolonged PR interval (HP:0012248)
Associated genes and diseases:
gene_symbol: SCN2B
disease_id: OMIM:615378
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 14
gene_symbol: SCN5A
disease_id: OMIM:113900
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: GPD1L
disease_id: OMIM:611777
disease_name: BRUGADA SYNDROME 2
gene_symbol: NKX2-5
disease_id: OMIM:108900
disease_name: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
Phenotype: Abnormal respiratory epithelium morphology (HP:0012253)
Associated genes and diseases:
gene_symbol: NME8
disease_id: OMIM:610852
disease_name: CILIARY DYSKINESIA, PRIMARY, 6
gene_symbol: DNAAF2
disease_id: OMIM:612518
disease_name: CILIARY DYSKINESIA, PRIMARY, 10
gene_symbol: DNAAF19
disease_id: OMIM:614679
disease_name: CILIARY DYSKINESIA, PRIMARY, 17
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: DNAH11
disease_id: OMIM:611884
disease_name: CILIARY DYSKINESIA, PRIMARY, 7
gene_symbol: ARMC2
disease_id: OMIM:618433
disease_name: SPERMATOGENIC FAILURE 38
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: TTC12
disease_id: OMIM:618801
disease_name: CILIARY DYSKINESIA, PRIMARY, 45
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: RSPH4A
disease_id: OMIM:612649
disease_name: CILIARY DYSKINESIA, PRIMARY, 11
gene_symbol: DNAJB13
disease_id: OMIM:617091
disease_name: CILIARY DYSKINESIA, PRIMARY, 34
gene_symbol: NME5
disease_id: OMIM:620032
disease_name: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS
gene_symbol: RSPH3
disease_id: OMIM:616481
disease_name: CILIARY DYSKINESIA, PRIMARY, 32
Phenotype: Ewing sarcoma (HP:0012254)
Associated genes and diseases:
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
gene_symbol: EWSR1
disease_id: OMIM:612219
disease_name: EWING SARCOMA
gene_symbol: BRD4
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
gene_symbol: NUTM1
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
Phenotype: Dynein arm defect of respiratory motile cilia (HP:0012255)
Associated genes and diseases:
gene_symbol: DNAAF19
disease_id: OMIM:614679
disease_name: CILIARY DYSKINESIA, PRIMARY, 17
gene_symbol: SPAG1
disease_id: OMIM:615505
disease_name: CILIARY DYSKINESIA, PRIMARY, 28
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: TTC12
disease_id: OMIM:618801
disease_name: CILIARY DYSKINESIA, PRIMARY, 45
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
gene_symbol: NME8
disease_id: OMIM:610852
disease_name: CILIARY DYSKINESIA, PRIMARY, 6
Phenotype: Absent outer dynein arms (HP:0012256)
Associated genes and diseases:
gene_symbol: DNAI1
disease_id: OMIM:244400
disease_name: CILIARY DYSKINESIA, PRIMARY, 1
gene_symbol: CFAP298
disease_id: OMIM:615500
disease_name: CILIARY DYSKINESIA, PRIMARY, 26
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: ODAD3
disease_id: OMIM:616037
disease_name: CILIARY DYSKINESIA, PRIMARY, 30
gene_symbol: DNAI2
disease_id: OMIM:612444
disease_name: CILIARY DYSKINESIA, PRIMARY, 9
gene_symbol: DNAL1
disease_id: OMIM:614017
disease_name: CILIARY DYSKINESIA, PRIMARY, 16
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: DNAAF1
disease_id: OMIM:613193
disease_name: CILIARY DYSKINESIA, PRIMARY, 13
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: CFAP300
disease_id: OMIM:618063
disease_name: CILIARY DYSKINESIA, PRIMARY, 38
gene_symbol: TTC12
disease_id: OMIM:618801
disease_name: CILIARY DYSKINESIA, PRIMARY, 45
gene_symbol: DNAAF3
disease_id: OMIM:606763
disease_name: CILIARY DYSKINESIA, PRIMARY, 2
gene_symbol: DNAAF11
disease_id: OMIM:614935
disease_name: CILIARY DYSKINESIA, PRIMARY, 19
Phenotype: ST segment depression (HP:0012250)
Associated genes and diseases:
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: TLL1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: RYR1
disease_id: ORPHA:466650
disease_name: Exercise-induced malignant hyperthermia
Exertional heat stroke
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
Phenotype: Superior rectus atrophy (HP:0012242)
Associated genes and diseases:
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Phenotype: Sex reversal (HP:0012245)
Associated genes and diseases:
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: CYP11A1
disease_id: OMIM:613743
disease_name: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
gene_symbol: CBX2
disease_id: OMIM:613080
disease_name: 46,XY SEX REVERSAL 5
gene_symbol: NR0B1
disease_id: OMIM:300018
disease_name: 46,XY SEX REVERSAL 2
gene_symbol: RSPO1
disease_id: ORPHA:85112
disease_name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
gene_symbol: ZFPM2
disease_id: OMIM:616067
disease_name: 46,XY SEX REVERSAL 9
gene_symbol: SOX9
disease_id: OMIM:616425
disease_name: 46,XY SEX REVERSAL 10
gene_symbol: SOX9
disease_id: OMIM:278850
disease_name: 46,XX SEX REVERSAL 2
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: AKR1C4
disease_id: OMIM:614279
disease_name: 46,XY SEX REVERSAL 8
gene_symbol: AKR1C2
disease_id: OMIM:614279
disease_name: 46,XY SEX REVERSAL 8
gene_symbol: WNT4
disease_id: ORPHA:139466
disease_name: SERKAL syndrome
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: MAP3K1
disease_id: OMIM:613762
disease_name: 46,XY SEX REVERSAL 6
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: NR5A1
disease_id: OMIM:612965
disease_name: 46,XY SEX REVERSAL 3
gene_symbol: SRY
disease_id: OMIM:400044
disease_name: 46,XY SEX REVERSAL 1
gene_symbol: SRY
disease_id: OMIM:400045
disease_name: 46,XX SEX REVERSAL 1
gene_symbol: DHH
disease_id: OMIM:233420
disease_name: 46,XY SEX REVERSAL 7
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated genes and diseases:
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
Phenotype: Brachytelomesophalangy (HP:0005872)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:606835
disease_name: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
Phenotype: Multiple skeletal anomalies (HP:0005775)
Associated genes and diseases:
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
Phenotype: Absent middle phalanx of 5th finger (HP:0009162)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:186100
disease_name: SYNDACTYLY, TYPE III
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
Phenotype: Short forearm (HP:0005773)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated genes and diseases:
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
Phenotype: 2-4 toe cutaneous syndactyly (HP:0005768)
Associated genes and diseases:
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: SVBP
disease_id: OMIM:618569
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
Phenotype: 1-2 toe complete cutaneous syndactyly (HP:0005767)
Associated genes and diseases:
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
Phenotype: Lumbar platyspondyly (HP:0005787)
Associated genes and diseases:
gene_symbol: PLCB3
disease_id: OMIM:618961
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY
Phenotype: Complete duplication of distal phalanx of the thumb (HP:0009606)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
Phenotype: Biconcave flattened vertebrae (HP:0003321)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A1
disease_id: OMIM:166200
disease_name: OSTEOGENESIS IMPERFECTA, TYPE I
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
Phenotype: Contractures of the large joints (HP:0005781)
Associated genes and diseases:
gene_symbol: PLAA
disease_id: ORPHA:521426
disease_name: PLAA-associated neurodevelopmental disorder
PLAAND
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: DPM2
disease_id: ORPHA:329178
disease_name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: CLIC2
disease_id: ORPHA:324410
disease_name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Phenotype: Absent fourth finger distal interphalangeal crease (HP:0005780)
Associated genes and diseases:
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
Phenotype: Distally placed thumb (HP:0009622)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: Aplasia of the distal phalanx of the 2nd finger (HP:0009565)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS