Phenotype: Short middle phalanx of finger (HP:0005819)
Associated genes and diseases:
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: NIN
disease_id: ORPHA:319675
disease_name: Microcephalic primordial dwarfism, Dauber type
gene_symbol: NIN
disease_id: OMIM:614851
disease_name: SECKEL SYNDROME 7
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: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
gene_symbol: HOXD13
disease_id: ORPHA:93409
disease_name: Brachydactyly-syndactyly, Zhao type
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: RUNX2
disease_id: OMIM:156510
disease_name: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
gene_symbol: TRPV4
disease_id: OMIM:606835
disease_name: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: TRPV4
disease_id: ORPHA:85169
disease_name: Familial digital arthropathy-brachydactyly
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: MYCN
disease_id: ORPHA:391641
disease_name: Feingold syndrome type 1
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
gene_symbol: MYCN
disease_id: OMIM:620748
disease_name: MEGALENCEPHALY-POLYDACTYLY SYNDROME
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: COL10A1
disease_id: OMIM:156500
disease_name: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
gene_symbol: GDF5
disease_id: ORPHA:63442
disease_name: Angel-shaped phalango-epiphyseal dysplasia
ASPED
gene_symbol: GDF5
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: GDF5
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: BMP2
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BMPR1B
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: BMPR1B
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:15
disease_name: Achondroplasia
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: IHH
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: ROR2
disease_id: OMIM:113000
disease_name: BRACHYDACTYLY, TYPE B1
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: CEP152
disease_id: OMIM:613823
disease_name: SECKEL SYNDROME 5
gene_symbol: DOCK6
disease_id: OMIM:614219
disease_name: ADAMS-OLIVER SYNDROME 2
gene_symbol: IFT57
disease_id: OMIM:617927
disease_name: OROFACIODIGITAL SYNDROME XVIII
gene_symbol: MIR17HG
disease_id: ORPHA:391646
disease_name: Feingold syndrome type 2
Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: HOXA13
disease_id: ORPHA:2438
disease_name: Hand-foot-genital syndrome
HFGS
Hand-foot-uterus syndrome
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME