Phenotype: Transverse terminal upper limb defect (HP:6000918)
Associated genes and diseases:
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: PLXND1
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: LMBR1
disease_id: OMIM:200500
disease_name: ACHEIROPODY
gene_symbol: LMBR1
disease_id: ORPHA:931
disease_name: Isolated acheiropodia
Isolated acheiropody
gene_symbol: DLX6
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: SEM1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: BTRC
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: TP63
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: EPS15L1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: FBXW4
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: WNT10B
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: DLX5
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: RBPJ
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: NOTCH1
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: ARHGAP31
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DOCK6
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: EOGT
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DLL4
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia